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They will remain for a while in this old address and will be removed in the future.

 

 

 

- databases for immunodeficiency-causing mutations

   NCF2base
   Mutation registry for  Autosomal recessive p67phox deficiency


Database        NCF2base
Version         1.2
File            ncf2pub.txt
Date            16-Jun-2011
Curator         Mauno Vihinen
Address         Institute of Medical Technology 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 7735
Fax             +358-3-3551 7710
Email           Mauno.Vihinen@uta.fi
URL             http://www.uta.fi/imt/bioinfo/NCF2base/
FTP             ftp://protein.uta.fi/pub/ncf2pub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF41.xml
Gene            NCF2
Disease         autosomal recessive chronic granulomatous disease(CGD), 
Disease         deficiency of p67 phox
OMIM            233710
GDB             120223
Sequence        EMBL:U00776; EMBL:U00777; EMBL:U00778; EMBL:U00779;
Sequence        EMBL:U00780; EMBL:U00781; EMBL:U00782; EMBL:U00783;
Sequence        EMBL:U00784; EMBL:U00785; EMBL:U00786; EMBL:U00787;
Sequence        EMBL:U00788; EMBL:M32011; SWISSPROT:P19878
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              #K19-3/R395W(1),Intron 4(1); standard; MUTATION;?/OPR,
Accession       M0004
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC;28280C>T],
Systematic name c.[55_63delAAGAAGGAC;1183C>T],
Systematic name r.[55_63delaagaaggac;1183c>u],
Systematic name p.[Lys19_Trp22del;Arg395Trp]
Systematic name Allele 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Original code   NS
Description     Allele 1: An inframe deletion in the exon 1 leading to
Description     an amino acid change and a point mutation in the exon
Description     13 leading to an amino acid change in the OPR domain
Description     Allele 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10498624
RefAuthors      Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J., 
RefAuthors      de Olarte, D. G., Curnutte, J. T.
RefTitle        Molecular characterization of autosomal recessive chronic 
RefTitle        granulomatous disease caused by a defect of the 
RefTitle        nicotinamide adenine dinucleotide phosphate (reduced form) 
RefTitle        oxidase component p67-phox.
RefLoc          Blood 94:2505-2514 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1307..1315
Feature           /change: -aagaaggac
Feature           /genomic_region: exon; 1
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28280
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature           /codon: cgg -> tgg; 1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 19..21
Feature           /change: -KKD
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 395
Feature           /change: R -> W
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 8
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 8
Feature           /dnalink: 7
Feature           /aalink: 9
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 9
Feature           /rnalink: 8
Feature           /name: unknown
Phenotype       A67 0
Sex             XX
Symptoms        severe
Cell tests      Western blot; 
//
ID              #K19-3/R395W(2),R66X(1); standard; MUTATION; ?/OPR,
Accession       M0015
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC; g.28280C>T], 
Systematic name c.[55_63delAAGAAGGAC; c.1183C>T],
Systematic name r.[55_63delaagaaggac; r.1183c>u],
Systematic name p.[Lys19_Trp22del; p.Arg395Trp]
Systematic name Allele 2: g.4626C>T, c.196C>T, r.196c>u, p.Arg66X
Original code   Patient 2
Description     Allele 1: An inframe deletion in the exon 1 leading to an
Description     inframe deletion of 3 amino acids, and a point mutation in
Description     the exon 13 leading to amino acid change in the OPR domain
Description     Allele 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10598813
RefAuthors      Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S., 
RefAuthors      Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P. 
RefAuthors      G.
RefTitle        Autosomal recessive chronic granulomatous disease caused 
RefTitle        by novel mutations in NCF-2, the gene encoding the p67-
RefTitle        phox component of phagocyte NADPH oxidase.
RefLoc          Hum Genet 105:460-467 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1307..1315
Feature           /change: -aagaaggac
Feature           /genomic_region: exon; 1
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28280
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature           /codon: cgg -> tgg; 1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 19..21
Feature           /change: -KKD
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 395
Feature           /change: R -> W
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 8
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4626
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 8
Feature           /dnalink: 7
Feature           /aalink: 9
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature           /codon: cga -> tga; 1
Feature         aa; 9
Feature           /rnalink: 8
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 66
Feature           /change: R -> X
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Ethnic origin   Hispanic
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0015 
//
ID              #K19-3/R395W(3),Intron 3(3); standard; MUTATION; ?/OPR,
Accession       M0021
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC; 28280C>T],
Systematic name c.[55_63delAAGAAGGAC; 1183C>T],
Systematic name r.[55_63delaagaaggac; 1183c>u],
Systematic name p.[Lys19_Trp22del; Arg395Trp]
Systematic name Allele 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code   P.1
Description     Allele 1: An inframe deletion in the exon 1 leading
Description     to an amino acid change and a point mutation in the
Description     exon 13 leading to an amino acid change in the OPR domain
Description     Allele 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1307..1315
Feature           /change: -aagaaggac
Feature           /genomic_region: exon; 1
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28280
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature           /codon: cgg -> tgg; 1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 19..21
Feature           /change: -KKD
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 395
Feature           /change: R -> W
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 8
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 8
Feature           /dnalink: 7
Feature           /aalink: 9
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 9
Feature           /rnalink: 8
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Age             1.5
Symptoms        Aspergillus osteomyelitis of chest wall;
//
ID              #K19-3/R395W(4),Intron 4(7); standard; MUTATION; ?/OPR,
Accession       M0084
Systematic name Allele 1: g.[1307_1315delAAGAAGGAC; 28280C>T],
Systematic name c.[55_63delAAGAAGGAC; 1183C>T],
Systematic name r.[55_63delaagaaggac; 1183c>u],
Systematic name p.[Lys19_Trp22del; Arg395Trp]
Systematic name Allele 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Original code   P.1
Description     Allele 1: An inframe deletion in the exon 1 leading
Description     to an amino acid change and a point mutation in the
Description     exon 13 leading to an amino acid change in the OPR domain
Description     Allele 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1307..1315
Feature           /change: -aagaaggac
Feature           /genomic_region: exon; 1
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28280
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 307..315
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1435
Feature           /codon: cgg -> tgg; 1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 19..21
Feature           /change: -KKD
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 395
Feature           /change: R -> W
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 8
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 8
Feature           /dnalink: 7
Feature           /aalink: 9
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 9
Feature           /rnalink: 8
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              M1V(1),#M163X168(1); standard; MUTATION;
Accession       M0092
Systematic name Allele 1: g.1253A>G, c.1A>G, r.1a>g, p.Met1Val
Systematic name Allele 2: g.17082_17095delTGGAGTGTGTCTGG,
Systematic name c.488_501delTGGAGTGTGTCTGG, r.488_501deluggagugugucugg,
Systematic name p.Met163fsX6
Description     Allele 1: A point mutation in the exon 1 leading to an
Description     amino acid change
Description     Allele 2: A frame shift deletion mutation in the exon 4
Description     leading to a premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1253
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 253
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 1
Feature           /change: M -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 17082..17095
Feature           /change: -tggagtgtgt ctgg
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 740..753
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 163..167
Feature           /change: MECVW -> KAEAIX
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              W10X(1),W10X(1); standard; MUTATION;
Accession       M0091
Systematic name Allele 1 and 2: g.1281G>A, c.29G>A, r.29g>a, p.Trp10X
Description     Allele 1 and 2: A point mutation in the exon 1 leading to a
Description     premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1281
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 281
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 10
Feature           /change: W -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1281
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 281
Feature           /codon: tgg -> tag; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 10
Feature           /change: W -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              N42S(1),N42S(1); standard; MUTATION;
Accession       M0086
Systematic name Allele 1 and 2: g.1377A>G, c.125A>G, r.125a>g, p.Asn42Ser
Description     Allele 1 and 2: A point mutation in the exon 1 leading to
Description     an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1377
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 377
Feature           /codon: aac -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 42
Feature           /change: N -> S
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1377
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 377
Feature           /codon: aac -> agc; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 42
Feature           /change: N -> S
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              G44C(1),G44C(1); standard; MUTATION;
Accession       M0093
Systematic name Allele 1 and 2: g.1382G>T, c.130G>T, r.130g>u, p.Gly44Cys
Description     Allele 1 and 2: A point mutation in the exon 1 leading to
Description     an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1382
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature           /codon: ggc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 44
Feature           /change: G -> C
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1382
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature           /codon: ggc -> tgc; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 44
Feature           /change: G -> C
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              G44R(1),G44R(1); standard; MUTATION;
Accession       M0023
Systematic name Allele 1 and 2: g.1382G>C, c.130G>C, r.130g>c, p.Gly44Arg
Original code   P4
Description     Allele 1 and 2: A point mutation in the exon 1 leading to
Description     an amino acid change
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1382
Feature           /change: g -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature           /codon: ggc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 44
Feature           /change: G -> R
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1382
Feature           /change: g -> c
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature           /codon: ggc -> cgc; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 44
Feature           /change: G -> R
Diagnosis       Classical chronic granulomatous disease
Age             2
Symptoms        Meningitis; Skin abscesses;
//
ID              G44R(2),G44R(2); standard; MUTATION;
Accession       M0074
Systematic name Allele 1 and 2: g.1382G>C, c.130G>C, r.130g>c, p.Gly44Arg
Description     Allele 1 and 2: A point mutation in the exon 1 leading to
Description     an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11112388
RefAuthors      Cross, A. R., Noack, D., Rae, J., Curnutte, J. T., 
RefAuthors      Heyworth, P. G.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (first 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:561-565 (2000)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1382
Feature           /change: g -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature           /codon: ggc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 44
Feature           /change: G -> R
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 1382
Feature           /change: g -> c
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 382
Feature           /codon: ggc -> cgc; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 44
Feature           /change: G -> R
Diagnosis       Classical chronic granulomatous disease
//
ID              #K58-1(1),Deletion(1); standard; MUTATION;
Accession       M0009
Systematic name Allele 1: g.1424_1426delAAG, c.172_174delAAG,
Systematic name r.172_174delaag, p.Lys58del
Original code   G.
Description     Allele 1: An inframe deletion in the exon 1 leading
Description     to an amino acid change
Description     Allele 2: Large undefined deletion
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8879195
RefAuthors      Leusen, J.H., de Klein, A., Hilarius, P.M., Ahlin, A., 
RefAuthors      Palmblad, J., Smith, C.I., Diekmann, D., Hall, A., 
RefAuthors      Verhoeven, A.J., Roos, D.
RefTitle        Disturbed interaction of p21-rac with mutated p67-phox 
RefTitle        causes chronic granulomatous disease
RefLoc          J. Exp. Med. 184:1243-1249 (1996)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1424..1426
Feature           /change: -aag
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 424..426
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 58
Feature           /change: -K
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /note: 11-13 kb deletion
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Phenotype       A67
Symptoms        severe
Sex             XX
Ethnic origin   South American
Symptoms        Synovitis; Lobar pneumonia; Abscess in parotid gland;
Symptoms        Sterile pyuria; Osteitis;
//
ID              #K58-1(2),#K58-1(2); standard; MUTATION;
Accession       M0094
Systematic name Allele 1 and 2: g.1424_1426delAAG, c.172_174delAAG,
Systematic name r.172_174delaag, p.Lys58del
Description     Allele 1 and 2: An inframe deletion in the exon 1 leading
Description     to an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1424..1426
Feature           /change: -aag
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 424..426
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 58
Feature           /change: -K
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 1424..1426
Feature           /change: -aag
Feature           /genomic_region: exon; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 424..426
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 58
Feature           /change: -K
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R66X(2),R66X(2); standard; MUTATION;
Accession       M0053
Systematic name Allele 1 and 2: g.4626C>T, c.196C>T, r.196c>u, p.Arg66X
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4626
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 66
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4626
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 66
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R66X(3),R66X(3); standard; MUTATION;
Accession       M0054
Systematic name Allele 1 and 2: g.4626C>T, c.196C>T, r.196c>u, p.Arg66X
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4626
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 66
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4626
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 448
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 66
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
//
ID              R77Q(1),Q100X(1); standard; MUTATION;
Accession       M0016
Systematic name Allele 1: g.4660G>A, c.230G>A, r.230g>a, p.Arg77Gln
Systematic name Allele 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Original code   Patient 3
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            15-Nov-2006 (Rel. 1, Created)
Date            15-Nov-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10598813
RefAuthors      Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S., 
RefAuthors      Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P. 
RefAuthors      G.
RefTitle        Autosomal recessive chronic granulomatous disease caused 
RefTitle        by novel mutations in NCF-2, the gene encoding the p67-
RefTitle        phox component of phagocyte NADPH oxidase.
RefLoc          Hum Genet 105:460-467 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4660
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 482
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13915
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 100
Feature           /change: Q -> X
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Ethnic origin   Caucasoid; European
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0016
//
ID              R77Q(2),Q100X(4); standard; MUTATION;
Accession       M0089
Systematic name Allele 1: g.4660G>A, c.230G>A, r.230g>a, p.Arg77Gln
Systematic name Allele 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4660
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 482
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13915
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 100
Feature           /change: Q -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R77Q(3),Q100X(5); standard; MUTATION;
Accession       M0096
Systematic name Allele 1: g.4660G>A, c.230G>A, r.230g>a, p.Arg77Gln
Systematic name Allele 2: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Description     Allele 1: A point mutation in the exon 2 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4660
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 482
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13915
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 100
Feature           /change: Q -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              R77X(1),R77X(1); standard; MUTATION;
Accession       M0029
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Original code   P.1
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19624736
RefAuthors      Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M., 
RefAuthors      Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., 
RefAuthors      Roos, D.
RefTitle        Four different NCF2 mutations in six families from turkey 
RefTitle        and an overview of NCF2 gene mutations.
RefLoc          Eur J Clin Invest:942-951 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Age             1
Sex             XY
Symptoms        Left inguinal lymphadenopathy; Hepatosplenomegaly;
Treatment       Itraconazole; Cotrimoxazole;
Comment         Patient died at age 14 years.
//
ID              R77X(2a),R77X(2a); standard; MUTATION;
Accession       M0040
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Relative        NCF2base; M0041
//
ID              R77X(2b),R77X(2b); standard; MUTATION;
Accession       M0041
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Relative        NCF2base; M0040
//
ID              R77X(3),R77X(3); standard; MUTATION;
Accession       M0067
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              R77X(4),R77X(4); standard; MUTATION;
Accession       M0078
Systematic name Allele 1 and 2: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Description     Allele 1 and 2: A point mutation in the exon 2 leading to a
Description     premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              R77X(5),@K345X381(1); standard; MUTATION;
Accession       M0095
Systematic name Allele 1: g.4659C>T, c.229C>T, r.229c>u, p.Arg77X
Systematic name Allele 2: g.28004dupA, c.1034dupA, r.1034dupa,
Systematic name p.Leu346fsX36
Description     Allele 1: A point mutation in the exon 2 leading to a
Description     premature stop codon
Description     Allele 2: A frame shift duplication mutation in the exon 12
Description     leading to a premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4659
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 481
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 77
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0100: 28005
Feature           /change: +a
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1287
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 345
Feature           /change: K -> KAQCSHALHT QGALQVHGSH EDSARAPLQP GPGHGVX
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              G78E(1),G78E(1); standard; MUTATION;
Accession       M0002
Systematic name Allele 1 and 2: g.4663G>A, c.233G>A, r.233g>a, p.Gly78Glu
Original code   k.
Description     Allele 1 and 2: A point mutation in the exon 2 leading to
Description     an amino acid change
Date            28-Sep-1999  (Rel. 1, Created)
Date            24-Aug-2010  (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8286749
RefAuthors      de Boer, M., Hilarius-Stokman, P.M., Hossle, J.P., 
RefAuthors      Verhoeven, A.J., Graf, N., Kenney, R.T., Seger, R., Roos,
RefAuthors      D.
RefTitle        Autosomal recessive chronic granulomatous disease with 
RefTitle        absence of the 67-kD cytosolic NADPH oxidase component: 
RefTitle        identification of mutation and detection of carriers
RefLoc          Blood 83:531-536 (1994)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4663
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 485
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: P19878; NCF2_HUMAN: 78
Feature           /change: G -> E
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 4663
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 485
Feature           /codon: ggg -> gag; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: P19878; NCF2_HUMAN: 78
Feature           /change: G -> E
Phenotype       A67 0
Symptoms        severe
Sex             XX
//
ID              D93E(1),D93E(1); standard; MUTATION;
Accession       M0030
Systematic name Allele 1 and 2: g.13896C>G, c.279C>G, r.279c>g, p.Asp93Glu
Original code   P.2
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19624736
RefAuthors      Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M., 
RefAuthors      Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos, 
RefAuthors      D.
RefTitle        Four different NCF2 mutations in six families from turkey 
RefTitle        and an overview of NCF2 gene mutations.
RefLoc          Eur J Clin Invest:942-951 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Diagnosis       Classical chronic granulomatous disease
Age             4
Sex             XX
Symptoms        Pneumonia; Liver abscesses;
Treatment       Itraconazole; Cotrimoxazole;
Comment         Patient's elder brother died of Aspergillus pneumonia at
Comment         age 4 years.
//
ID              D93E(2),D93E(2); standard; MUTATION;
Accession       M0031
Systematic name Allele 1 and 2: g.13896C>G, c.279C>G, r.279c>g, p.Asp93Glu
Original code   P.3
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19624736
RefAuthors      Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M., 
RefAuthors      Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos, 
RefAuthors      D.
RefTitle        Four different NCF2 mutations in six families from turkey 
RefTitle        and an overview of NCF2 gene mutations.
RefLoc          Eur J Clin Invest:942-951 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Diagnosis       Classical chronic granulomatous disease
Age             2
Sex             XX
Symptoms        Hip abscess; Sepsis; Osteomyelitis;
Treatment       Itraconazole; Cotrimoxazole;
//
ID              D93E(3),D93E(3); standard; MUTATION;
Accession       M0032
Systematic name Allele 1 and 2: g.13896C>G, c.279C>G, r.279c>g, p.Asp93Glu
Original code   P.4
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19624736
RefAuthors      Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M., 
RefAuthors      Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos, 
RefAuthors      D.
RefTitle        Four different NCF2 mutations in six families from turkey 
RefTitle        and an overview of NCF2 gene mutations.
RefLoc          Eur J Clin Invest:942-951 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Diagnosis       Classical chronic granulomatous disease
Age             3
Sex             XX
Symptoms        Pneumonia; Inguinal abscesses;
Treatment       Itraconazole; Cotrimoxazole;
//
ID              D93E/Intron 4(1),D93E/Intron 4(1); standard; MUTATION;
Accession       M0047
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change and a point mutation in the intron 4
Description     leading to aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 9
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 8
Feature           /rnalink: 10
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 9
Feature           /dnalink: 7
Feature           /aalink: 11
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 10
Feature           /dnalink: 8
Feature           /aalink: 12
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 11
Feature           /rnalink: 9
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 12
Feature           /rnalink: 10
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              D93E/Intron 4(2),D93E/Intron 4(2); standard; MUTATION;
Accession       M0048
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change and a point mutation in the intron 4
Description     leading to aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 9
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 8
Feature           /rnalink: 10
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 9
Feature           /dnalink: 7
Feature           /aalink: 11
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 10
Feature           /dnalink: 8
Feature           /aalink: 12
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 11
Feature           /rnalink: 9
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 12
Feature           /rnalink: 10
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              D93E/Intron 4(3),D93E/Intron 4(3); standard; MUTATION;
Accession       M0049
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change and a point mutation in the intron 4
Description     leading to aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 9
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 8
Feature           /rnalink: 10
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 9
Feature           /dnalink: 7
Feature           /aalink: 11
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 10
Feature           /dnalink: 8
Feature           /aalink: 12
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 11
Feature           /rnalink: 9
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 12
Feature           /rnalink: 10
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              D93E/Intron 4(4),D93E/Intron 4(4); standard; MUTATION;
Accession       M0050
Systematic name Allele 1 and 2: g.[13896C>G; 17096G>C],
Systematic name c.[279C>G; 501+1G>C], r.[279c>g; 501+1g>c],
Systematic name p.[Asp93Glu; ?]
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change and a point mutation in the intron 4
Description     leading to aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 9
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13896
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         dna; 8
Feature           /rnalink: 10
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 9
Feature           /dnalink: 7
Feature           /aalink: 11
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 531
Feature           /codon: gac -> gag; 3
Feature         rna; 10
Feature           /dnalink: 8
Feature           /aalink: 12
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 11
Feature           /rnalink: 9
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 93
Feature           /change: D -> E
Feature         aa; 12
Feature           /rnalink: 10
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              #E96-1(1),#E96-1(1); standard; MUTATION;
Accession       M0097
Systematic name Allele 1 and 2: g.13904_13906delAAG, c.287_289delAAG,
Systematic name r.287_289delaag, p.Glu96del
Description     Allele 1 and 2: An inframe deletion in the exon 3 leading
Description     to an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 13904..13906
Feature           /change: -aag
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 539..541
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 96..97
Feature           /change: EA -> A
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 13904..13906
Feature           /change: -aag
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 539..541
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 96..97
Feature           /change: EA -> A
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Q100X(2),A140V(1); standard; MUTATION;
Accession       M0045
Systematic name Allele 1: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Systematic name Allele 2: g.17013C>T, c.419C>T, r.419c>u, p.Ala140Val
Description     Allele 1: A point mutation in the exon 3 leading to a
Description     premature stop codon
Description     Allele 2: A point mutation in the exon 4 leading to an
Description     amino acid change
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13915
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 100
Feature           /change: Q -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17013
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 671
Feature           /codon: gct -> gtt; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 140
Feature           /change: A -> V
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              Q100X(3),Intron 8(1); standard; MUTATION;
Accession       M0046
Systematic name Allele 1: g.13915C>T, c.298C>T, r.298c>u, p.Gln100X
Systematic name Allele 2: g.24593G>T, c.856-1G>T, r.856-1g>u
Description     Allele 1: A point mutation in the exon 3 leading to a
Description     premature stop codon
Description     Allele 2: A point mutation in the intron 8 leading to
Description     aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13915
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 550
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 100
Feature           /change: Q -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 24593
Feature           /change: g -> t
Feature           /genomic_region: intron; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R102P(1),K342K(2); standard; MUTATION;
Accession       M0099
Systematic name Allele 1: g.13922G>C, c.305G>C, r.305g>c, p.Arg102Pro
Systematic name Allele 2: g.27577G>A, c.1026G>A, r.1026g>a, p.Lys342Lys
Description     Allele 1: A point mutation in the exon 3 leading to an
Description     amino acid change
Description     Allele 2: A point mutation in the exon 11 leading to an
Description     amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13922
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 557
Feature           /codon: cga -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> P
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 27577
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1278
Feature           /codon: aag -> aaa; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 342
Feature           /change: K -> K
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              R102X(1),R102X(1); standard; MUTATION;
Accession       M0001
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code   LC
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            28-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10498624
RefAuthors      Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J., 
RefAuthors      de Olarte, D. G., Curnutte, J. T.
RefTitle        Molecular characterization of autosomal recessive chronic 
RefTitle        granulomatous disease caused by a defect of the 
RefTitle        nicotinamide adenine dinucleotide phosphate (reduced form) 
RefTitle        oxidase component p67-phox.
RefLoc          Blood 94:2505-2514 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Phenotype       A67 0
Sex             XX
Symptoms        severe
Cell tests      Western blot; 
//
ID              R102X(2a),R102X(2a); standard; MUTATION;
Accession       M0035
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code   P.20
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            13-Aug-2010 (Rel. 1, Created)
Date            13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18708296
RefAuthors      Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors      Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G., 
RefAuthors      Etzioni, A., Roos, D.
RefTitle        Chronic granulomatous disease in israel: clinical, 
RefTitle        functional and molecular studies of 38 patients.
RefLoc          Clin Immunol:103-114 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Age             3 mo
Sex             XY
Ethnic origin   Arabic
Relative        NCF2base; M0036 brother
Relative        NCF2base; M0037 cousin
Relative        NCF2base; M0038 cousin
//
ID              R102X(2b),R102X(2b); standard; MUTATION;
Accession       M0036
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code   P.21
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            13-Aug-2010 (Rel. 1, Created)
Date            13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18708296
RefAuthors      Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors      Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G., 
RefAuthors      Etzioni, A., Roos, D.
RefTitle        Chronic granulomatous disease in israel: clinical, 
RefTitle        functional and molecular studies of 38 patients.
RefLoc          Clin Immunol:103-114 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Age             7 weeks
Sex             XY
Ethnic origin   Arabic
Relative        NCF2base; M0035 brother
Relative        NCF2base; M0037 cousin
Relative        NCF2base; M0038 cousin
//
ID              R102X(2c),R102X(2c); standard; MUTATION;
Accession       M0037
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code   P.22
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            13-Aug-2010 (Rel. 1, Created)
Date            13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18708296
RefAuthors      Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors      Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G., 
RefAuthors      Etzioni, A., Roos, D.
RefTitle        Chronic granulomatous disease in israel: clinical, 
RefTitle        functional and molecular studies of 38 patients.
RefLoc          Clin Immunol:103-114 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Age             4.5
Sex             XX
Ethnic origin   Arabic
Relative        NCF2base; M0035 cousin
Relative        NCF2base; M0036 cousin
Relative        NCF2base; M0038 sister
//
ID              R102X(2d),R102X(2d); standard; MUTATION;
Accession       M0038
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Original code   P.23
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            13-Aug-2010 (Rel. 1, Created)
Date            13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18708296
RefAuthors      Wolach, B., Gavrieli, R., de Boer, M., Gottesman, G., Ben-
RefAuthors      Ari, J., Rottem, M., Schlesinger, Y., Grisaru-Soen, G., 
RefAuthors      Etzioni, A., Roos, D.
RefTitle        Chronic granulomatous disease in israel: clinical, 
RefTitle        functional and molecular studies of 38 patients.
RefLoc          Clin Immunol:103-114 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Age             2 mo
Sex             XX
Ethnic origin   Arabic
Relative        NCF2base; M0035 cousin
Relative        NCF2base; M0036 cousin
Relative        NCF2base; M0037 sister
//
ID              R102X(3),R102X(3); standard; MUTATION;
Accession       M0039
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            13-Aug-2010 (Rel. 1, Created)
Date            13-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R102X(4),R102X(4); standard; MUTATION;
Accession       M0075
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R102X(5),K342K(1); standard; MUTATION;
Accession       M0079
Systematic name Allele 1: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Systematic name Allele 2: g.27577G>A, c.1026G>A, r.1026g>a, p.Lys342Lys
Description     Allele 1: A point mutation in the exon 3 leading to a
Description     premature stop codon
Description     Allele 2: A point mutation in the exon 11 leading to an
Description     amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 27577
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1278
Feature           /codon: aag -> aaa; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 342
Feature           /change: K -> K
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              R102X(6),R102X(6); standard; MUTATION;
Accession       M0098
Systematic name Allele 1 and 2: g.13921C>T, c.304C>T, r.304c>u, p.Arg102X
Description     Allele 1 and 2: A point mutation in the exon 3 leading to a
Description     premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13921
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 556
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 102
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              D108V(1),D108V(1); standard; MUTATION;
Accession       M0022
Systematic name Allele 1 and 2: g.13940A>T, c.323A>T, r.323a>u, p.Asp108Val
Description     Allele 1 and 2: A point mutation in the exon 3 leading to
Description     an amino acid change
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13940
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 575
Feature           /codon: gac -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 108
Feature           /change: D -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13940
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 575
Feature           /codon: gac -> gtc; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 108
Feature           /change: D -> V
Diagnosis       Classical chronic granulomatous disease
Age             10
Sex             XX
Symptoms        Adenitis;
//
ID              A128V(1a),A128V(1a); standard; MUTATION;
Accession       M0013
Systematic name Allele 1 and 2: g.16977C>T, c.383C>T, r.383c>u, p.Ala128Val
Original code   Patient 1a
Description     Allele 1 and 2: A point mutation in the exon 4 leading to
Description     an amino acid change
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10598813
RefAuthors      Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S., 
RefAuthors      Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P. 
RefAuthors      G.
RefTitle        Autosomal recessive chronic granulomatous disease caused 
RefTitle        by novel mutations in NCF-2, the gene encoding the p67-
RefTitle        phox component of phagocyte NADPH oxidase.
RefLoc          Hum Genet 105:460-467 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 16977
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 128
Feature           /change: A -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 16977
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature           /codon: gct -> gtt; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 128
Feature           /change: A -> V
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Ethnic origin   Venezuelan
Family history  Inherited
Relative        NCF2base; M0014 brother
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0013
//
ID              A128V(1b),A128V(1b); standard; MUTATION;
Accession       M0014
Systematic name Allele 1 and 2: g.16977C>T, c.383C>T, r.383c>u, p.Ala128Val
Original code   Patient 1b
Description     Allele 1 and 2: A point mutation in the exon 4 leading to
Description     an amino acid change
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10598813
RefAuthors      Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S., 
RefAuthors      Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P. 
RefAuthors      G.
RefTitle        Autosomal recessive chronic granulomatous disease caused 
RefTitle        by novel mutations in NCF-2, the gene encoding the p67-
RefTitle        phox component of phagocyte NADPH oxidase.
RefLoc          Hum Genet 105:460-467 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 16977
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 128
Feature           /change: A -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 16977
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 635
Feature           /codon: gct -> gtt; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 128
Feature           /change: A -> V
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Ethnic origin   Venezuelan
Family history  Inherited
Relative        NCF2base; M0013 brother
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0014
//
ID              @K134X145(1),@K134X145(1); standard; MUTATION;
Accession       M0006
Systematic name Allele 1 and 2: g.16992_16993dup, c.398_399dup,
Systematic name r.398_399dup, p.Lys134fsX12
Original code   KA
Description     Allele 1 and 2: A frame shift duplication mutation in the
Description     exon 4 leading to a premature stop codon
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7795241
RefAuthors      Nunoi, H., Iwata, M., Tatsuzawa, S., Onoe, Y., Shimizu, 
RefAuthors      S., Kanegasaki, S., Matsuda, I.
RefTitle        AG dinucleotide insertion in a patient with chronic 
RefTitle        granulomatous disease lacking cytosolic 67-kD protein
RefLoc          Blood 86:329-333 (1995)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0100: 16994
Feature           /change: +ag
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 652
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 134
Feature           /change: K -> RRRNGKKLKN SX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0100: 16994
Feature           /change: +ag
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 652
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 134
Feature           /change: K -> RRRNGKKLKN SX
Phenotype       A67 0
Age             19
Sex             XY
Symptoms        Perianal abscess; Liver abscess; Severe lung abscess;
Symptoms        Pneumonia;
//
ID              D160V/K161E(1),=; standard; MUTATION;
Accession       M0012
Systematic name Allele 1: g.[17073A>T; 17075A>G], c.[479A>T; 481A>G],
Systematic name r.[479a>u; 481a>g], p.[Asp160Val; Lys161Glu]
Description     Allele 1: Two point mutations in the exon 4 leading to 
Description     amino acid changes
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9070911
RefAuthors      Bonizzato, A., Russo, M. P., Donini, M., Dusi, S.
RefTitle        Identification of a double mutation (D160V-K161E) in the 
RefTitle        p67phox gene of a chronic granulomatous disease patient.
RefLoc          Biochem Biophys Res Commun:861-863 (1997)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 3
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17073
Feature           /change: a -> t
Feature           /genomic_region: exon; 4
Feature         dna; 2
Feature           /rnalink: 4
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17075
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 3
Feature           /dnalink: 1
Feature           /aalink: 5
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 731
Feature           /codon: gac -> gtc; 2
Feature         rna; 4
Feature           /dnalink: 2
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 733
Feature           /codon: aag -> gag; 1
Feature         aa; 5
Feature           /rnalink: 3
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 160
Feature           /change: D -> V
Feature         aa; 6
Feature           /rnalink: 4
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 161
Feature           /change: K -> E
FeatureHeader   allele; 2
Feature         dna; 7
Feature           /rnalink: 8
Feature           /name: unknown
Feature         rna; 8
Feature           /dnalink: 7
Feature           /aalink: 9
Feature           /name: unknown
Feature         aa; 9
Feature           /rnalink: 8
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0012
//
ID              W137R(1),W137R(1); standard; MUTATION;
Accession       M0072
Systematic name Allele 1 and 2: g.17003T>A, c.409T>A, r.409u>a, p.Trp137Arg
Description     Allele 1 and 2: A point mutation in the exon 4 leading to
Description     an amino acid change
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17003
Feature           /change: t -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 661
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 137
Feature           /change: W -> R
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17003
Feature           /change: t -> a
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 661
Feature           /codon: tgg -> agg; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 137
Feature           /change: W -> R
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              #K161X176(1),#K161X176(1); standard; MUTATION;
Accession       M0088
Systematic name Allele 1 and 2: g.17076delA, c.482delA, r.482dela,
Systematic name p.Lys161fsX16
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     4 leading to a premature stop codon
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 17076
Feature           /change: -a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 734
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 161
Feature           /change: K -> RRWSVSGSRS YMSQWX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 17076
Feature           /change: -a
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 734
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 161
Feature           /change: K -> RRWSVSGSRS YMSQWX
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Q169E(1),Q169E(1); standard; MUTATION;
Accession       M0081
Systematic name Allele 1 and 2: g.18293C>G, c.505C>G, r.505c>g, p.Gln169Glu
Description     Allele 1 and 2: A point mutation in the exon 5 leading to
Description     an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18293
Feature           /change: c -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 757
Feature           /codon: cag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 169
Feature           /change: Q -> E
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18293
Feature           /change: c -> g
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 757
Feature           /codon: cag -> gag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 169
Feature           /change: Q -> E
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              R184P(1),R184P(1); standard; MUTATION;
Accession       M0052
Systematic name Allele 1 and 2: g.18339G>C, c.551G>C, r.551g>c, p.Arg184Pro
Description     Allele 1 and 2: A point mutation in the exon 5 leading to
Description     an amino acid change
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18339
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 803
Feature           /codon: cga -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 184
Feature           /change: R -> P
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18339
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 803
Feature           /codon: cga -> cca; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 184
Feature           /change: R -> P
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              R184X(1),R184X(1); standard; MUTATION;
Accession       M0064
Systematic name Allele 1 and 2: g.18338C>T, c.550C>T, r.550c>u, p.Arg184X
Description     Allele 1 and 2: A point mutation in the exon 5 leading to a
Description     premature stop codon
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18338
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 802
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 184
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18338
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 802
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 184
Feature           /change: R -> X
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Q192X(1),Q192X(1); standard; MUTATION;
Accession       M0034
Systematic name Allele 1 and 2: g.18362C>T, c.574C>T, r.574c>u, p.Gln192X
Original code   P.4
Description     Allele 1 and 2: A point mutation in the exon 5 leading to a
Description     premature stop codon
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19683193
RefAuthors      Al-Muhsen, S., Al-Hemidan, A., Al-Shehri, A., Al-Harbi, 
RefAuthors      A., Al-Ghonaium, A., Al-Saud, B., Al-Mousa, H., Al-Dhekri, 
RefAuthors      H., Arnaout, R., Al-Mohsen, I., Alsmadi, O.
RefTitle        Ocular manifestations in chronic granulomatous disease in 
RefTitle        saudi arabia.
RefLoc          J AAPOS:396-399 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18362
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 826
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 192
Feature           /change: Q -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18362
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 826
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 192
Feature           /change: Q -> X
Diagnosis       Classical chronic granulomatous disease
Age             1
Sex             XY
Ethnic origin   Saudi Arabia
Symptoms        Recurrent skin abscess; Chorioretinal lesions;
//
ID              #K196-1(1),#K196-1(1); standard; MUTATION;
Accession       M0100
Systematic name Allele 1 and 2: g.18374_18376delAAG, c.586_588delAAG,
Systematic name r.586_588delaag, p.Lys196del
Description     Allele 1 and 2: An inframe deletion in the exon 5 leading
Description     to an amino acid change
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 18374..18376
Feature           /change: -aag
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 838..840
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 196
Feature           /change: -K
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 18374..18376
Feature           /change: -aag
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 838..840
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: SWISS-PROT P19878: 196
Feature           /change: -K
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              A202V(1),A202V(1); standard; MUTATION;
Accession       M0033
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Original code   P.6
Description     Allele 1 and 2: A point mutation in the exon 5 leading to
Description     an amino acid change
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19624736
RefAuthors      Koker, M. Y., Sanal, O., van Leeuwen, K., de Boer, M., 
RefAuthors      Metin, A., PatiroA�lu, T., Ozgur, T. T., Tezcan, I., Roos, 
RefAuthors      D.
RefTitle        Four different NCF2 mutations in six families from turkey 
RefTitle        and an overview of NCF2 gene mutations.
RefLoc          Eur J Clin Invest:942-951 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
Diagnosis       Classical chronic granulomatous disease
Age             8
Sex             XX
Symptoms        Eczematous scalp skin;
Treatment       Gamma-interferon; Sulbactam ampicillin; Itraconazole;
Treatment       Cotrimoxazole;
//
ID              A202V(2),A202V(2); standard; MUTATION;
Accession       M0042
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Description     Allele 1 and 2: A point mutation in the exon 5 leading to
Description     an amino acid change
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              A202V(3a),A202V(3a); standard; MUTATION;
Accession       M0043
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Description     Allele 1 and 2: A point mutation in the exon 5 leading to
Description     an amino acid change
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Relative        NCF2base; M0044
//
ID              A202V(3b),A202V(3b); standard; MUTATION;
Accession       M0044
Systematic name Allele 1 and 2: g.18393C>T, c.605C>T, r.605c>u, p.Ala202Val
Description     Allele 1 and 2: A point mutation in the exon 5 leading to
Description     an amino acid change
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 18393
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 857
Feature           /codon: gca -> gta; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 202
Feature           /change: A -> V
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Relative        NCF2base; M0044
//
ID              #E243X270(1a),Intron 3(7a); standard; MUTATION; SH3I,
Accession       M0026
Systematic name Allele 1: g.24251delA, c.728delA, r.728dela,
Systematic name p.Glu243fsX28
Systematic name Allele 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code   P11a
Description     Allele 1: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the SH3I domain
Description     Allele 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24251
Feature           /change: -a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 980
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 243
Feature           /change: E -> GLTVCYLGLC LRQKKSSRSC QGTLSLSX
Feature           /domain: SH3I
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Age             3
Relative        NCF2base; M0027;
Symptoms        Serratia skin abscess;
//
ID              #E243X270(1b),Intron 3(7b); standard; MUTATION; SH3I,
Accession       M0027
Systematic name Allele 1: g.24251delA, c.728delA, r.728dela,
Systematic name p.Glu243fsX28
Systematic name Allele 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code   P11b
Description     Allele 1: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the SH3I domain
Description     Allele 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24251
Feature           /change: -a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 980
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 243
Feature           /change: E -> GLTVCYLGLC LRQKKSSRSC QGTLSLSX
Feature           /domain: SH3I
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Age             1 mo
Relative        NCF2base; M0026;
Symptoms        Serratia cellulitis; Adenitis;
//
ID              @E257X271(1),@E257X271(1); standard; MUTATION; SH3I,SH3I
Accession       M0090
Systematic name Allele 1 and 2: g.24290_24291dup, c.767_768dup,
Systematic name r.767_768dup, p.Glu257fsX15
Description     Allele 1 and 2: A frame shift duplication mutation in the
Description     exon 8 leading to a premature stop codon in the SH3I domain
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0100: 24292
Feature           /change: +aa
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1021
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 257
Feature           /change: E -> KKSSRSCQGT LSLSX
Feature           /domain: SH3I
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0100: 24292
Feature           /change: +aa
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1021
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 257
Feature           /change: E -> KKSSRSCQGT LSLSX
Feature           /domain: SH3I
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              #V267X274(1),#V267X274(1); standard; MUTATION; SH3I,SH3I
Accession       M0062
Systematic name Allele 1 and 2: g.24322_24323delGT, c.799_800delGT,
Systematic name r.799_800delgu, p.Val267fsX8
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the SH3I domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18546332
RefAuthors      Kannengiesser, C., Gerard, B., El Benna, J., Henri, D., 
RefAuthors      Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M. 
RefAuthors      A., Elbim, C., Grandchamp, B.
RefTitle        Molecular epidemiology of chronic granulomatous disease in 
RefTitle        a series of 80 kindreds: identification of 31 novel 
RefTitle        mutations.
RefLoc          Hum Mutat:E132-149 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24322..24323
Feature           /change: -gt
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1051..1052
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 267
Feature           /change: V -> LCLEEGQX
Feature           /domain: SH3I
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24322..24323
Feature           /change: -gt
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1051..1052
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 267
Feature           /change: V -> LCLEEGQX
Feature           /domain: SH3I
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              #T279X294(1),#T279X294(1); standard; MUTATION; SH3I,SH3I
Accession       M0017
Systematic name Allele 1 and 2: g.24358_24359delAC, c.835_836delAC,
Systematic name r.835_836delac, p.Thr279fsX16
Original code   Patient 4
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the SH3I domain
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10598813
RefAuthors      Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S., 
RefAuthors      Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P. 
RefAuthors      G.
RefTitle        Autosomal recessive chronic granulomatous disease caused 
RefTitle        by novel mutations in NCF-2, the gene encoding the p67-
RefTitle        phox component of phagocyte NADPH oxidase.
RefLoc          Hum Genet:460-467 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24358..24359
Feature           /change: -ac
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 279
Feature           /change: T -> GHVQRAEGAC SLQLPX
Feature           /domain: SH3I
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24358..24359
Feature           /change: -ac
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 279
Feature           /change: T -> GHVQRAEGAC SLQLPX
Feature           /domain: SH3I
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Ethnic origin   Indian
Symptoms        Pneumonia, lymphadenitis caused by Serratia marcescens
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0017
//
ID              #T279X294(2),#T279X294(2); standard; MUTATION; SH3I,SH3I
Accession       M0082
Systematic name Allele 1 and 2: g.24358_24359delAC, c.835_836delAC,
Systematic name r.835_836delac, p.Thr279fsX16
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     8 leading to a premature stop codon in the SH3I domain
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24358..24359
Feature           /change: -ac
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 279
Feature           /change: T -> GHVQRAEGAC SLQLPX
Feature           /domain: SH3I
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 24358..24359
Feature           /change: -ac
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1087..1088
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 279
Feature           /change: T -> GHVQRAEGAC SLQLPX
Feature           /domain: SH3I
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Q367X(1),Q367X(1); standard; MUTATION; OPR,OPR
Accession       M0083
Systematic name Allele 1 and 2: g.28069C>T, c.1099C>T, r.1099c>u, p.Gln367X
Description     Allele 1 and 2: A point mutation in the exon 12 leading to
Description     a premature stop codon in the OPR domain
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28069
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1351
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 367
Feature           /change: Q -> X
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28069
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1351
Feature           /codon: cag -> tag; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 367
Feature           /change: Q -> X
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              #T390X399(1),#T390X399(1); standard; MUTATION;
Accession       M0005
Systematic name Allele 1 and 2: g.28139_28143delCTAAG, c.1169_1173delCTAAG,
Systematic name r.1169_1173delcuaag, p.Lys391fsX9
Original code   AA
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10498624
RefAuthors      Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J., 
RefAuthors      de Olarte, D. G., Curnutte, J. T.
RefTitle        Molecular characterization of autosomal recessive chronic 
RefTitle        granulomatous disease caused by a defect of the 
RefTitle        nicotinamide adenine dinucleotide phosphate (reduced form) 
RefTitle        oxidase component p67-phox.
RefLoc          Blood 94:2505-2514 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28139..28143
Feature           /change: -ctaag
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 390..391
Feature           /change: TK -> TELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28139..28143
Feature           /change: -ctaag
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 390..391
Feature           /change: TK -> TELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Age             2
Sex             XY
Ethnic origin   Palestinian
Symptoms        Failure to thrive; Peritonitis;
Comment         Patient's sister died of septicemia and multi organ failure
Comment         at the age of 40 days
//
ID              #T390X399(2),#T390X399(2); standard; MUTATION; OPR,OPR
Accession       M0028
Systematic name Allele 1 and 2: g.28139_28143delCTAAG, c.1169_1173delCTAAG,
Systematic name r.1169_1173delcuaag, p.Lys391fsX9
Original code   P17
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28139..28143
Feature           /change: -ctaag
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 390..391
Feature           /change: TK -> TELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28139..28143
Feature           /change: -ctaag
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1421..1425
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 390..391
Feature           /change: TK -> TELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Age             2 mo
Symptoms        Candida lusitaniae peritonitis;
//
ID              #K391X399(1a),#K391X399(1a); standard; MUTATION; OPR,OPR
Accession       M0055
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Relative        NCF2base; M0056
//
ID              #K391X399(1b),#K391X399(1b); standard; MUTATION; OPR,OPR
Accession       M0056
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Relative        NCF2base; M0055
//
ID              #K391X399(2a),#K391X399(2a); standard; MUTATION; OPR,OPR
Accession       M0057
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code   I2
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18773283
RefAuthors      Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A., 
RefAuthors      El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A., 
RefAuthors      Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle        First report of clinical, functional, and molecular 
RefTitle        investigation of chronic granulomatous disease in nine 
RefTitle        jordanian families.
RefLoc          J Clin Immunol:215-230 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Relative        NCF2base; M0058
Symptoms        Granuloma in lung; Heart failure;
//
ID              #K391X399(2b),#K391X399(2b); standard; MUTATION; OPR,OPR
Accession       M0058
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code   I3
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18773283
RefAuthors      Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A., 
RefAuthors      El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A., 
RefAuthors      Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle        First report of clinical, functional, and molecular 
RefTitle        investigation of chronic granulomatous disease in nine 
RefTitle        jordanian families.
RefLoc          J Clin Immunol:215-230 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Relative        NCF2base; M0057
Symptoms        Hepatomegaly; Anemia; Lymphadenitis; Chickenpox;
//
ID              #K391X399(3),#K391X399(3); standard; MUTATION; OPR,OPR
Accession       M0068
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code   C1
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18773283
RefAuthors      Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A., 
RefAuthors      El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A., 
RefAuthors      Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle        First report of clinical, functional, and molecular 
RefTitle        investigation of chronic granulomatous disease in nine 
RefTitle        jordanian families.
RefLoc          J Clin Immunol:215-230 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Symptoms        Multifocal osteomyelitis; Hepatomegaly; Bacteriemia;
Symptoms        Occasional fever; Hepatitis A; Amoebiasis; Failure
Symptoms        to thrive;
//
ID              #K391X399(4),#K391X399(4); standard; MUTATION; OPR,OPR
Accession       M0069
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Original code   F5
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18773283
RefAuthors      Bakri, F. G., Martel, C., Khuri-Bulos, N., Mahafzah, A., 
RefAuthors      El-Khateeb, M. S., Al-Wahadneh, A. M., Hayajneh, W. A., 
RefAuthors      Hamamy, H. A., Maquet, E., Molin, M., Stasia, M. J.
RefTitle        First report of clinical, functional, and molecular 
RefTitle        investigation of chronic granulomatous disease in nine 
RefTitle        jordanian families.
RefLoc          J Clin Immunol:215-230 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Symptoms        Fever; Diarrhoea; Hepatitis; Skina and perianal abscesses;
Symptoms        Respiratory tract infection; Lymphadenitis; Peritonitis;
Symptoms        Hepatomegaly;
//
ID              #K391X399(5),#K391X399(5); standard; MUTATION; OPR,OPR
Accession       M0070
Systematic name Allele 1 and 2: g.28141_28145delAAGCT, c.1171_1175delAAGCT,
Systematic name r.1171_1175delaagcu, p.Lys391fsX9
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     12 leading to a premature stop codon in the OPR domain
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0100: 28141..28145
Feature           /change: -aagct
Feature           /genomic_region: exon; 12
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1423..1427
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT P19878: 391..392
Feature           /change: KL -> ELSASGQQX
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              N419I(1),N419I(1); standard; MUTATION; OPR,OPR
Accession       M0019
Systematic name Allele 1 and 2: g.28353A>T, c.1256A>T, r.1256a>u,
Systematic name p.Asn419Ile
Original code   CGD-17
Description     Allele 1 and 2: A point mutation in the exon 13 leading to
Description     an amino acid change in the OPR domain
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16937026
RefAuthors      El Kares, R., Barbouche, M. R., Elloumi-Zghal, H., 
RefAuthors      Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N., 
RefAuthors      Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S., 
RefAuthors      Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle        Genetic and mutational heterogeneity of autosomal 
RefTitle        recessive chronic granulomatous disease in tunisia.
RefLoc          J Hum Genet 51:887-895 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28353
Feature           /change: a -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1508
Feature           /codon: aac -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 419
Feature           /change: N -> I
Feature           /domain: OPR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 28353
Feature           /change: a -> t
Feature           /genomic_region: exon; 13
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0100; GI:1346669; NCF2C: 1508
Feature           /codon: aac -> atc; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT P19878: 419
Feature           /change: N -> I
Feature           /domain: OPR
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Ethnic origin   Tunisian
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0019
//
ID              Intron 2(1),Intron 2(1); standard; MUTATION;
Accession       M0085
Systematic name Allele 1 and 2: g.13874G>A, c.258-1G>A, r.258-1g>a
Description     Allele 1 and 2: A point mutation in the intron 2 leading to
Description     aberrant splicing
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13874
Feature           /change: g -> a
Feature           /genomic_region: intron; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13874
Feature           /change: g -> a
Feature           /genomic_region: intron; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Intron 3(1),Intron 3(1); standard; MUTATION;
Accession       M0010
Systematic name Allele 1 and 2: g.13985T>C, c.366+2T>C, r.366+2u>c
Original code   GZ
Description     Allele 1 and 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7803798
RefAuthors      Tanugi-Cholley, L.C., Issartel, J.P., Lunardi, J., 
RefAuthors      Freycon, F., Morel, F., Vignais, P.V.
RefTitle        A mutation located at the 5' splice junction sequence of 
RefTitle        intron 3 in the p67phox gene causes the lack of p67phox 
RefTitle        mRNA in a patient with chronic granulomatous disease
RefLoc          Blood 85:242-249 (1995)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13985
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13985
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Age             19
Sex             XX
Ethnic origin   North African
Symptoms        Recurrent lymphadenitis; Osteomyelitis; Abscesses;
//
ID              Intron 3(2),Intron 3(2); standard; MUTATION;
Accession       M0020
Systematic name Allele 1 and 2: g.IVS3+2T>C, c.366+2T>C, r.366+2u>c
Original code   CGD-193
Description     Allele 1 and 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            15-Nov-2006 (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16937026
RefAuthors      El Kares, R., Barbouche, M. R., Elloumi-Zghal, H., 
RefAuthors      Bejaoui, M., Chemli, J., Mellouli, F., Tebib, N., 
RefAuthors      Abdelmoula, M. S., Boukthir, S., Fitouri, Z., M'rad, S., 
RefAuthors      Bouslama, K., Touiri, H., Abdelhak, S., Dellagi, M. K.
RefTitle        Genetic and mutational heterogeneity of autosomal 
RefTitle        recessive chronic granulomatous disease in tunisia.
RefLoc          J Hum Genet:887-895 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13985
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13985
Feature           /change: t -> c
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Ethnic origin   Tunisian
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0020 
//
ID              Intron 3(5),Intron 3(5); standard; MUTATION;
Accession       M0024
Systematic name Allele 1 and 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code   P9
Description     Allele 1 and 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Age             1.5
Symptoms        Lung and liver abscesses;
//
ID              Intron 3(6),Intron 3(6); standard; MUTATION;
Accession       M0025
Systematic name Allele 1 and 2: g.13984G>A, c.366+1G>A, r.366+1g>a
Original code   P10
Description     Allele 1 and 2: A point mutation in the intron 3 leading to
Description     aberrant splicing
Date            23-Jul-2010 (Rel. 1, Created)
Date            23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18625437
RefAuthors      Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. 
RefAuthors      G., Curnutte, J. T., Lewis, D. B.
RefTitle        Focus on FOCIS: the continuing diagnostic challenge of 
RefTitle        autosomal recessive chronic granulomatous disease.
RefLoc          Clin Immunol:117-126 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 13984
Feature           /change: g -> a
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Symptoms        Aspergillus pneumonia;
Comment         Patient died at age 4 years.
//
ID              Intron 4(2),Intron 4(2); standard; MUTATION;
Accession       M0011
Systematic name Allele 1 and 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Original code   IP
Description     Allele 1 and 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10498624
RefAuthors      Patino, P. J., Rae, J., Noack, D., Erickson, R., Ding, J., 
RefAuthors      de Olarte, D. G., Curnutte, J. T.
RefTitle        Molecular characterization of autosomal recessive chronic 
RefTitle        granulomatous disease caused by a defect of the 
RefTitle        nicotinamide adenine dinucleotide phosphate (reduced form) 
RefTitle        oxidase component p67-phox.
RefLoc          Blood 94:2505-2514 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Age             4
Sex             XX
Ethnic origin   Mexico
//
ID              Intron 4(3),Intron 4(3); standard; MUTATION;
Accession       M0018
Systematic name Allele 1 and 2: g.IVS4+1G>A, c.501+1G>A, r.501+1g>a
Original code   Patient 5
Description     Allele 1 and 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            15-Nov-2006 (Rel. 1, Created)
Date            15-Nov-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10598813
RefAuthors      Noack, D., Rae, J., Cross, A. R., Munoz, J., Salmen, S., 
RefAuthors      Mendoza, J. A., Rossi, N., Curnutte, J. T., Heyworth, P. 
RefAuthors      G.
RefTitle        Autosomal recessive chronic granulomatous disease caused 
RefTitle        by novel mutations in NCF-2, the gene encoding the p67-
RefTitle        phox component of phagocyte NADPH oxidase.
RefLoc          Hum Genet 105:460-467 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Ethnic origin   Hispanic
Symptoms        Multiple abscesses in his liver, spleen, and lungs
Comment         The accession of this entry has been changed to maintain
Comment         the uniformity in naming and it was previously N0018
//
ID              Intron 4(5),Intron 4(5); standard; MUTATION;
Accession       M0051
Systematic name Allele 1 and 2: g.17096G>C, c.501+1G>C, r.501+1g>c
Description     Allele 1 and 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Intron 4(6),Intron 4(6); standard; MUTATION;
Accession       M0060
Systematic name Allele 1 and 2: g.17096G>A, c.501+1G>A, r.501+1g>a
Description     Allele 1 and 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18546332
RefAuthors      Kannengiesser, C., Gerard, B., El Benna, J., Henri, D., 
RefAuthors      Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M. 
RefAuthors      A., Elbim, C., Grandchamp, B.
RefTitle        Molecular epidemiology of chronic granulomatous disease in 
RefTitle        a series of 80 kindreds: identification of 31 novel 
RefTitle        mutations.
RefLoc          Hum Mutat:E132-149 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 17096
Feature           /change: g -> a
Feature           /genomic_region: intron; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Intron 5(1),Intron 5(1); standard; MUTATION;
Accession       M0073
Systematic name Allele 1 and 2: g.20742G>T, c.610-1G>T, r.610-1g>u
Description     Allele 1 and 2: A point mutation in the intron 5 leading to
Description     aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 20742
Feature           /change: g -> t
Feature           /genomic_region: intron; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 20742
Feature           /change: g -> t
Feature           /genomic_region: intron; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Intron 9(1),Intron 9(1); standard; MUTATION;
Accession       M0007
Systematic name Allele 1 and 2: g.24663G>A, c.924+1G>A, r.924+1g>a
Description     Allele 1 and 2: A point mutation in the intron 9 leading to
Description     aberrant splicing
Date            29-Sep-1999  (Rel. 1, Created)
Date            06-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8781442
RefAuthors      Aoshima, M., Nunoi, H., Shimazu, M., Shimizu, S., 
RefAuthors      Tatsuzawa, O., Kenney, R.T., Kanegasaki, S.
RefTitle        Two-exon skipping due to a point mutation in 
RefTitle        p67-phox--deficient chronic granulomatous disease
RefLoc          Blood 88:1841-1845 (1996)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 24663
Feature           /change: g -> a
Feature           /genomic_region: intron; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 24663
Feature           /change: g -> a
Feature           /genomic_region: intron; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Phenotype       A67 0
Diagnosis       Classical chronic granulomatous disease
Age             24
Sex             XY
Symptoms        Recurrent skin abscess; Pneumonia; Cervical lymphadenitis;
Symptoms        Gastroenteritis;
//
ID              Intron 13(1a),Intron 13(1a); standard; MUTATION;
Accession       M0065
Systematic name Allele 1 and 2: g.31307A>T, c.1291-2A>T, r.1291-2a>u
Description     Allele 1 and 2: A point mutation in the intron 13 leading
Description     to aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 31307
Feature           /change: a -> t
Feature           /genomic_region: intron; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 31307
Feature           /change: a -> t
Feature           /genomic_region: intron; 13
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Relative        NCF2base; M0066;
//
ID              Intron 13(1b),Intron 13(1b); standard; MUTATION;
Accession       M0066
Systematic name Allele 1 and 2: g.31307A>T, c.1291-2A>T, r.1291-2a>u
Description     Allele 1 and 2: A point mutation in the intron 13 leading
Description     to aberrant splicing
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 31307
Feature           /change: a -> t
Feature           /genomic_region: intron; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: -2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0100: 31307
Feature           /change: a -> t
Feature           /genomic_region: intron; 13
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: -2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Relative        NCF2base; M0065;
//
ID              Deletion(1),Deletion(1); standard; MUTATION;
Accession       M0061
Systematic name Allele 1 and 2: g.13981_13985delGAGGT, c.364_366+2delGAGGT
Description     Allele 1 and 2: An aminoacid deletion in exon 3 and two
Description     base pair deletion in the donor site of intron 3 leading to
Description     the deletion of exon 4 
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18546332
RefAuthors      Kannengiesser, C., Gerard, B., El Benna, J., Henri, D., 
RefAuthors      Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M. 
RefAuthors      A., Elbim, C., Grandchamp, B.
RefTitle        Molecular epidemiology of chronic granulomatous disease in 
RefTitle        a series of 80 kindreds: identification of 31 novel 
RefTitle        mutations.
RefLoc          Hum Mutat:E132-149 (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Deletion(2),Deletion(2); standard; MUTATION;
Accession       M0063
Systematic name Allele 1 and 2: c.502-?_609+?del
Description     Allele 1 and 2: Deletion of intron 4_5 
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              Deletion(3),Deletion(3); standard; MUTATION;
Accession       M0071
Systematic name Allele 1 and 2: c.1-?_257+?del
Description     Allele 1 and 2: Deletion of exons 1_2 
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefLoc          Dr. Dirk Roos, CLB, Plesmanlaan 125, 1066 CX Amsterdam,
RefLoc          The Netherlands., Tel 31-20-5123377, Fax 31-20-5123474, 
RefLoc          e-mail d_roos@clb.nl
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 1_2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 1_2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Deletion(4a),Deletion(4a); standard; MUTATION;
Accession       M0076
Systematic name Allele 1 and 2: c.366+2401_502-527del, p.V123_W167del
Description     Allele 1 and 2: Deletion of intron 4_5.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19953534
RefAuthors      Gentsch, M., Kaczmarczyk, A., van Leeuwen, K., de Boer, 
RefAuthors      M., Kaus-Drobek, M., Dagher, M. C., Kaiser, P., Arkwright, 
RefAuthors      P. D., Gahr, M., Rosen-Wolff, A., Bochtler, M., Secord, 
RefAuthors      E., Britto-Williams, P., Saifi, G. M., Maddalena, A., 
RefAuthors      Dbaibo, G., Bustamante, J., Casanova, J. L., Roos, D., 
RefAuthors      Roesler, J.
RefTitle        Alu-repeat-induced deletions within the NCF2 gene causing 
RefTitle        p67-phox-deficient chronic granulomatous disease (CGD).
RefLoc          Hum Mutat:151-158 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
Relative        NCF2base; M0077;
//
ID              Deletion(4b),Deletion(4b); standard; MUTATION;
Accession       M0077
Systematic name Allele 1 and 2: c.366+2401_502-527del, p.V123_W167del
Description     Allele 1 and 2: Deletion of intron 4_5.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19953534
RefAuthors      Gentsch, M., Kaczmarczyk, A., van Leeuwen, K., de Boer, 
RefAuthors      M., Kaus-Drobek, M., Dagher, M. C., Kaiser, P., Arkwright, 
RefAuthors      P. D., Gahr, M., Rosen-Wolff, A., Bochtler, M., Secord, 
RefAuthors      E., Britto-Williams, P., Saifi, G. M., Maddalena, A., 
RefAuthors      Dbaibo, G., Bustamante, J., Casanova, J. L., Roos, D., 
RefAuthors      Roesler, J.
RefTitle        Alu-repeat-induced deletions within the NCF2 gene causing 
RefTitle        p67-phox-deficient chronic granulomatous disease (CGD).
RefLoc          Hum Mutat:151-158 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 5
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
Relative        NCF2base; M0076;
//
ID              Deletion(5),Deletion(5); standard; MUTATION;
Accession       M0087
Systematic name Allele 1: c.367-?_501+?del
Description     Allele 1: Deletion of exon 4.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Deletion(6),Deletion(6); standard; MUTATION;
Accession       M0101
Systematic name Allele 1: c.175-?_257+?del
Description     Allele 1: Deletion of exon 2.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Deletion(7),Deletion(7); standard; MUTATION;
Accession       M0102
Systematic name Allele 1: c.175-?_257+?del
Description     Allele 1: Deletion of exon 2.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              Deletion(8),Deletion(8); standard; MUTATION;
Accession       M0103
Systematic name Allele 1: c.258-?_366+?del
Description     Allele 1: Deletion of exon 3.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
ID              Deletion(9),Deletion(9); standard; MUTATION;
Accession       M0104
Systematic name Allele 1: c.1-?_257+?del
Description     Allele 1: Deletion of exon 1_2.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20167518
RefAuthors      Roos, D., Kuhns, D. B., Maddalena, A., Bustamante, J., 
RefAuthors      Kannengiesser, C., de Boer, M., van Leeuwen, K., Koker, M. 
RefAuthors      Y., Wolach, B., Roesler, J., Malech, H. L., Holland, S. 
RefAuthors      M., Gallin, J. I., Stasia, M. J.
RefTitle        Hematologically important mutations: the autosomal 
RefTitle        recessive forms of chronic granulomatous disease (second 
RefTitle        update).
RefLoc          Blood Cells Mol Dis:291-299 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /genomic_region: exon; 1_2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /genomic_region: exon; 1_2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
//
ID              Insertion (1), Insertion (1); standard; MUTATION;
Accession       M0059
Systematic name Allele 1 and 2: c.856-?_1000+?dup
Description     Allele 1 and 2: Duplication of exons 9 and 10 
Date            16-Aug-2010 (Rel. 1, Created)
Date            16-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11499676
RefAuthors      Borgato, L., Bonizzato, A., Lunardi, C., Dusi, S., 
RefAuthors      Andrioli, G., Scarperi, A., Corrocher, R.
RefTitle        A 1.1-kb duplication in the p67-phox gene causes chronic 
RefTitle        granulomatous disease.
RefLoc          Hum Genet:504-510 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /genomic_region: exons; 9-10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /genomic_region: exons; 9-10
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XY
//
ID              Insertion(2),?; standard; MUTATION;
Accession       M0080
Systematic name Allele 1: c.714-?_924+?ins
Description     Allele 1: Duplication of exon 8_9.
Date            17-Aug-2010 (Rel. 1, Created)
Date            17-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19953534
RefAuthors      Gentsch, M., Kaczmarczyk, A., van Leeuwen, K., de Boer, 
RefAuthors      M., Kaus-Drobek, M., Dagher, M. C., Kaiser, P., Arkwright, 
RefAuthors      P. D., Gahr, M., Rosen-Wolff, A., Bochtler, M., Secord, 
RefAuthors      E., Britto-Williams, P., Saifi, G. M., Maddalena, A., 
RefAuthors      Dbaibo, G., Bustamante, J., Casanova, J. L., Roos, D., 
RefAuthors      Roesler, J.
RefTitle        Alu-repeat-induced deletions within the NCF2 gene causing 
RefTitle        p67-phox-deficient chronic granulomatous disease (CGD).
RefLoc          Hum Mutat:151-158 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /genomic_region: exon; 8_9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Diagnosis       Classical chronic granulomatous disease
Sex             XX
//
//

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Last modified 16.06.2011