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- databases for immunodeficiency-causing mutations

   GFI1base
   Mutation registry for  Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA)


Database        GFI1base
Version         1.2
File            gfi1pub.html
Date            21-Aug-2008
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://bioinf.uta.fi/GFI1base/
FTP             ftp://protein.uta.fi/pub/gfi1pub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF85.xml
Gene            GFI1
Disease         SCN; NI-CINA  
OMIM            600871
GDB             389574
Sequence        IDRefSeq:D0037; IDRefSeq:C0037; UniProt:Q99684 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              S36N(1); standard; MUTATION;
Accession       G0005
Systematic name g.4502G>A, c.107G>A, r.107g>a, p.Ser36Asn
Original code   patient
Description     A point mutation in the exon 2 leading to an amino acid
Description     change
Date            09-May-2008 (Rel. 1, Created)
Date            09-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17096407
RefAuthors      Hochberg, J. C., Miron, P. M., Hay, B. N., Woda, B. A., 
RefAuthors      Wang, S. A., Richert-Przygonska, M., Aprikyan, A. A., 
RefAuthors      Newburger, P. E.
RefTitle        Mosaic tetraploidy and transient GFI1 mutation in a 
RefTitle        patient with severe chronic neutropenia.
RefLoc          Pediatr Blood Cancer:630-632 (2008)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0037: 4502
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0037; GI:1698691; GFI1C: 374
Feature           /codon: agc -> aac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q99684; GFI1_HUMAN: 36
Feature           /change: S -> N
Diagnosis       SCN
Symptoms        upper respiratory infections, cellulitis, sinusitis, otitis
Symptoms        media, mastoiditis, typhlitis
Age             2
Sex             XY
Family history  Inherited
Comment         Patient has mosaic tetraploidy
//
ID              N382S(1a); standard; MUTATION;
Accession       G0001
Systematic name g.11730A>G, c.1145A>G, r.1145a>g, p.Asn382Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change
Date            20-Feb-2004 (Rel. 1, Created)
Date            20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12778173
RefAuthors      Person, R. E., Li, F. Q., Duan, Z., Benson, K. F., 
RefAuthors      Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman, 
RefAuthors      C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T., 
RefAuthors      Grimes, H. L., Horwitz, M.
RefTitle        Mutations in proto-oncogene GFI1 cause human neutropenia 
RefTitle        and target ELA2.
RefLoc          Nat Genet 34:308-312 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0037: 11730
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0037: 1412
Feature           /codon: aac -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q99684; GFI1_HUMAN: 382
Feature           /change: N -> S
Diagnosis       SCN
Age             4 mo
Sex             XY
Family history  Inherited
Relative        GFI1base; G0002 halfbrother
Relative        GFI1base; G0003 father
//
ID              N382S(1b); standard; MUTATION;
Accession       G0002
Systematic name g.11730A>G, c.1145A>G, r.1145a>g, p.Asn382Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change
Date            20-Feb-2004 (Rel. 1, Created)
Date            20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12778173
RefAuthors      Person, R. E., Li, F. Q., Duan, Z., Benson, K. F., 
RefAuthors      Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman, 
RefAuthors      C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T., 
RefAuthors      Grimes, H. L., Horwitz, M.
RefTitle        Mutations in proto-oncogene GFI1 cause human neutropenia 
RefTitle        and target ELA2.
RefLoc          Nat Genet 34:308-312 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0037: 11730
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0037: 1412
Feature           /codon: aac -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q99684; GFI1_HUMAN: 382
Feature           /change: N -> S
Diagnosis       SCN
Age             3
Sex             XY
Family history  Inherited
Relative        GFI1base; G0001 halfbrother
Relative        GFI1base; G0003 father
//
ID              N382S(1c); standard; MUTATION;
Accession       G0003
Systematic name g.11730A>G, c.1145A>G, r.1145a>g, p.Asn382Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change
Date            20-Feb-2004 (Rel. 1, Created)
Date            20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12778173
RefAuthors      Person, R. E., Li, F. Q., Duan, Z., Benson, K. F., 
RefAuthors      Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman, 
RefAuthors      C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T., 
RefAuthors      Grimes, H. L., Horwitz, M.
RefTitle        Mutations in proto-oncogene GFI1 cause human neutropenia 
RefTitle        and target ELA2.
RefLoc          Nat Genet 34:308-312 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0037: 11730
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0037: 1412
Feature           /codon: aac -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q99684; GFI1_HUMAN: 382
Feature           /change: N -> S
Diagnosis       SCN
Symptoms        recurrent pneumonia and pyogenic abscesses abating
Symptoms        during childhood
Sex             XY
Relative        GFI1base; G0001 son
Relative        GFI1base; G0002 son
//
ID              K403R(1); standard; MUTATION;
Accession       G0004
Systematic name g.11793A>G, c.1208A>G, r.1208a>g, p.Lys403Arg
Original code   66-year-old woman
Description     A point mutation in the exon 7 leading to an amino acid
Description     change
Date            20-Feb-2004 (Rel. 1, Created)
Date            20-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12778173
RefAuthors      Person, R. E., Li, F. Q., Duan, Z., Benson, K. F., 
RefAuthors      Wechsler, J., Papadaki, H. A., Eliopoulos, G., Kaufman, 
RefAuthors      C., Bertolone, S. J., Nakamoto, B., Papayannopoulou, T., 
RefAuthors      Grimes, H. L., Horwitz, M.
RefTitle        Mutations in proto-oncogene GFI1 cause human neutropenia 
RefTitle        and target ELA2.
RefLoc          Nat Genet 34:308-312 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0037: 11793
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0037: 1475
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: Q99684; GFI1_HUMAN: 403
Feature           /change: K -> R
Diagnosis       NI-CINA
Sex             XX
//

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Last modified 25.03.2011