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IDbases have been moved to Lund University and are available at

http://structure.bmc.lu.se/idbase/

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

 

 

 

- databases for immunodeficiency-causing mutations

   STAT1base
   Mutation registry for  STAT1 deficiency


Database        STAT1base
Version         1.1
File            stat1pub.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://bioinf.uta.fi/STAT1base/
FTP             ftp://protein.uta.fi/pub/stat1pub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF70.xml
Gene            STAT1
Disease         STAT1 deficiency 
OMIM            600555
GDB             682055
Sequence        IDRefSeq:D0081; IDRefSeq:C0081; UniProt:P42224 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              E320Q(1a),=; standard; MUTATION;
Accession       S0005
Systematic name Allele 1: g.23382G>C, c.958G>C, r.958g>c, p.Glu320Gln
Original code   P1
Description     Allele 1: A point mutation in the exon 11 leading to
Description     an amino acid change
Date            23-Mar-2007 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16934001
RefAuthors      Chapgier, A., Boisson-Dupuis, S., Jouanguy, E., Vogt, G., 
RefAuthors      Feinberg, J., Prochnicka-Chalufour, A., Casrouge, A., 
RefAuthors      Yang, K., Soudais, C., Fieschi, C., Santos, O. F., 
RefAuthors      Bustamante, J., Picard, C., de Beaucoudrey, L., Emile, J. 
RefAuthors      F., Arkwright, P. D., Schreiber, R. D., Rolinck-
RefAuthors      Werninghaus, C., Rosen-Wolff, A., Magdorf, K., Roesler, 
RefAuthors      J., Casanova, J. L.
RefTitle        Novel STAT1 alleles in otherwise healthy patients with 
RefTitle        mycobacterial disease.
RefLoc          PLoS Genet:e131 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 23382
Feature           /change: g -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 1306
Feature           /codon: gaa -> caa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 320
Feature           /change: E -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        BCG vaccination:
Symptoms           BCG vaccinated: Yes; infected by BCG: Yes; infection:
Symptoms           disseminated BCG disease (BCG-osis) with fever, tuberculoid
Symptoms           granulomatous inflammation, several small spots of
Symptoms           osteolysis in his shoulder blade, and a slightly enlarged
Symptoms           spleen and enlarged lymph nodes in the lower abdomen
Sex             XY
Ethnic origin   Caucasoid; Germany
Parents         Non-consanguineous
Relative        STAT1base; S0006; mother
//
ID              E320Q(1b),=; standard; MUTATION;
Accession       S0006
Systematic name Allele 1: g.23382G>C, c.958G>C, r.958g>c, p.Glu320Gln
Original code   A,III.2
Description     Allele 1: A point mutation in the exon 11 leading to
Description     an amino acid change
Date            23-Mar-2007 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16934001
RefAuthors      Chapgier, A., Boisson-Dupuis, S., Jouanguy, E., Vogt, G., 
RefAuthors      Feinberg, J., Prochnicka-Chalufour, A., Casrouge, A., 
RefAuthors      Yang, K., Soudais, C., Fieschi, C., Santos, O. F., 
RefAuthors      Bustamante, J., Picard, C., de Beaucoudrey, L., Emile, J. 
RefAuthors      F., Arkwright, P. D., Schreiber, R. D., Rolinck-
RefAuthors      Werninghaus, C., Rosen-Wolff, A., Magdorf, K., Roesler, 
RefAuthors      J., Casanova, J. L.
RefTitle        Novel STAT1 alleles in otherwise healthy patients with 
RefTitle        mycobacterial disease.
RefLoc          PLoS Genet:e131 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 23382
Feature           /change: g -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 1306
Feature           /codon: gaa -> caa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 320
Feature           /change: E -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        BCG vaccination:
Symptoms           BCG vaccinated: Yes; infected by BCG: Yes; infection: local
Symptoms           BCG disease (BCG-itis) at 14 years of age
Sex             XX
Ethnic origin   Caucasoid; Germany
Parents         Non-consanguineous
Relative        STAT1base; S0005; son
//
ID              Q463H(1),=; standard; MUTATION;
Accession       S0007
Systematic name Allele 1: g.30990G>T, c.1389G>T, r.1389g>u,
Systematic name p.Gln463His
Original code   P2
Description     Allele 1: A point mutation in the exon 17 leading to
Description     an amino acid change
Date            23-Mar-2007 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16934001
RefAuthors      Chapgier, A., Boisson-Dupuis, S., Jouanguy, E., Vogt, G., 
RefAuthors      Feinberg, J., Prochnicka-Chalufour, A., Casrouge, A., 
RefAuthors      Yang, K., Soudais, C., Fieschi, C., Santos, O. F., 
RefAuthors      Bustamante, J., Picard, C., de Beaucoudrey, L., Emile, J. 
RefAuthors      F., Arkwright, P. D., Schreiber, R. D., Rolinck-
RefAuthors      Werninghaus, C., Rosen-Wolff, A., Magdorf, K., Roesler, 
RefAuthors      J., Casanova, J. L.
RefTitle        Novel STAT1 alleles in otherwise healthy patients with 
RefTitle        mycobacterial disease.
RefLoc          PLoS Genet:e131 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 30990
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 1737
Feature           /codon: cag -> cat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 463
Feature           /change: Q -> H
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: no change
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: no change
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: no change
Symptoms        BCG vaccination:
Symptoms           BCG vaccinated: No
Symptoms        Mycobacterial infections:
Symptoms           M. avium complex (MAC); pulmonary infection at age of 2
Symptoms           years
Sex             XY
Ethnic origin   Caucasoid; Germany
Parents         Non-consanguineous
Comment         Patient's father and half-brother carry the same mutation,
Comment         but at the time of the study they are asymptomatic
//
ID              #E587X604(1),#E587X604(1); standard; MUTATION; SH2,SH2
Accession       S0003
Systematic name Allele 1 and 2: g.35720_35721delAG, c.1760_1761delAG,
Systematic name r.1760_1761delag, p.Glu587fsX18
Original code   P1
Description     Allele 1 and 2: a frame shift deletion mutation in the exon
Description     21 leading to a premature stop codon in the SH2 domain
Date            13-Aug-2003 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12590259
RefAuthors      Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-
RefAuthors      Mohsen, I. Z., Al-Jumaah, S., Yang, K., Chapgier, A., 
RefAuthors      Eidenschenk, C., Eid, P., Al Ghonaium, A., Tufenkeji, H., 
RefAuthors      Frayha, H., Al-Gazlan, S., Al-Rayes, H., Schreiber, R. D., 
RefAuthors      Gresser, I., Casanova, J. L.
RefTitle        Impaired response to interferon-alpha/beta and lethal 
RefTitle        viral disease in human STAT1 deficiency.
RefLoc          Nat Genet 33:388-391 (2003)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0081: 35720..35721
Feature           /change: -ag
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0081: 2108..2109
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 587
Feature           /change: E -> ACPVEGPAAG DLPAAVQX
Feature           /domain: SH2
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0081: 35720..35721
Feature           /change: -ag
Feature           /genomic_region: exon; 21
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0081: 2108..2109
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 587
Feature           /change: E -> ACPVEGPAAG DLPAAVQX
Feature           /domain: SH2
Symptoms        BCG vaccination:
Symptoms           BCG vaccinated: Yes; infected by BCG: Yes
Symptoms        Other clinical features: Patient died of disseminated
Symptoms        disease with recurrent encephalitis caused by herpes
Symptoms        simplex virus 1 (HSV-1)
Sex             XX
Parents         Consanguineous
//
ID              L600P(1),L600P(1); standard; MUTATION; SH2,SH2
Accession       S0004
Systematic name Allele 1 and 2: g.35759T>C, c.1799T>C, r.1799u>c,
Systematic name p.Leu600Pro
Original code   P2
Description     Allele 1 and 2: a point mutation in the exon 21 leading to
Description     an amino acid change in the SH2 domain
Date            13-Aug-2003 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12590259
RefAuthors      Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-
RefAuthors      Mohsen, I. Z., Al-Jumaah, S., Yang, K., Chapgier, A., 
RefAuthors      Eidenschenk, C., Eid, P., Al Ghonaium, A., Tufenkeji, H., 
RefAuthors      Frayha, H., Al-Gazlan, S., Al-Rayes, H., Schreiber, R. D., 
RefAuthors      Gresser, I., Casanova, J. L.
RefTitle        Impaired response to interferon-alpha/beta and lethal 
RefTitle        viral disease in human STAT1 deficiency.
RefLoc          Nat Genet 33:388-391 (2003)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 35759
Feature           /change: t -> c
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 2147
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 600
Feature           /change: L -> P
Feature           /domain: SH2
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 35759
Feature           /change: t -> c
Feature           /genomic_region: exon; 21
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 2147
Feature           /codon: ctg -> ccg; 2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 600
Feature           /change: L -> P
Feature           /domain: SH2
Symptoms        BCG vaccination:
Symptoms           BCG vaccinated: Yes; infected by BCG: Yes
Symptoms        Other clinical features: Patient died of viral-like ilness,
Symptoms        but viral cultures and serologies could not be done
Sex             XX
Parents         Consanguineous
//
ID              P696S(1a),P696S(1a); standard; MUTATION;
Accession       S0008
Systematic name Allele 1 and 2: g.38828C>T, c.2086C>T, r.2086c>u,
Systematic name p.Pro696Ser
Original code   P.1
Description     Allele 1 and 2: A point mutation in the exon 23 leading to
Description     an amino acid change
Date            06-Jul-2010 (Rel. 1, Created)
Date            06-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19436109
RefAuthors      Chapgier, A., Kong, X. F., Boisson-Dupuis, S., Jouanguy, 
RefAuthors      E., Averbuch, D., Feinberg, J., Zhang, S. Y., Bustamante, 
RefAuthors      J., Vogt, G., Lejeune, J., Mayola, E., de Beaucoudrey, L., 
RefAuthors      Abel, L., Engelhard, D., Casanova, J. L.
RefTitle        A partial form of recessive STAT1 deficiency in humans.
RefLoc          J Clin Invest:1502-1514 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 38828
Feature           /change: c -> t
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081; GI:184650; STAT1C: 2434
Feature           /codon: cct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 696
Feature           /change: P -> S
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 38828
Feature           /change: c -> t
Feature           /genomic_region: exon; 23
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081; GI:184650; STAT1C: 2434
Feature           /codon: cct -> tct; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 696
Feature           /change: P -> S
Symptoms        Salmonella infections: yes
Sex             XY
Ethnic origin   Israel
Parents         Consanguineous
Relative        STAT1base; S0009 sister
Comment         Patient's mother is heterozygous to the same mutation.
//
ID              P696S(1b),P696S(1b); standard; MUTATION;
Accession       S0009
Systematic name Allele 1 and 2: g.38828C>T, c.2086C>T, r.2086c>u,
Systematic name p.Pro696Ser
Original code   P.2
Description     Allele 1 and 2: A point mutation in the exon 23 leading to
Description     an amino acid change
Date            06-Jul-2010 (Rel. 1, Created)
Date            06-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19436109
RefAuthors      Chapgier, A., Kong, X. F., Boisson-Dupuis, S., Jouanguy, 
RefAuthors      E., Averbuch, D., Feinberg, J., Zhang, S. Y., Bustamante, 
RefAuthors      J., Vogt, G., Lejeune, J., Mayola, E., de Beaucoudrey, L., 
RefAuthors      Abel, L., Engelhard, D., Casanova, J. L.
RefTitle        A partial form of recessive STAT1 deficiency in humans.
RefLoc          J Clin Invest:1502-1514 (2009)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 38828
Feature           /change: c -> t
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081; GI:184650; STAT1C: 2434
Feature           /codon: cct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 696
Feature           /change: P -> S
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 38828
Feature           /change: c -> t
Feature           /genomic_region: exon; 23
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081; GI:184650; STAT1C: 2434
Feature           /codon: cct -> tct; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 696
Feature           /change: P -> S
Symptoms        Salmonella infections: yes
Symptoms        Other clinical features: Herpes virus infection
Sex             XX
Ethnic origin   Israel
Parents         Consanguineous
Relative        STAT1base; S0008 brother
Comment         Patient's mother is heterozygous to the same mutation.
//
ID              L706S(1),?; ; MUTATION;
Accession       S0001
Systematic name Allele 1: g.38859T>C, c.2313T>C, p.L706S
Original code   P1
Description     Allele 1: point mutation in the exon 23 leading to an 
Description     amino acid change
Date            02-Oct-2002 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11452125
RefAuthors      Dupuis, S., Dargemont, C., Fieschi, C., Thomassin, N., 
RefAuthors      Rosenzweig, S., Harris, J., Holland, S. M., Schreiber, R. 
RefAuthors      D., Casanova, J. L.
RefTitle        Impairment of mycobacterial but not viral immunity by a 
RefTitle        germline human STAT1 mutation.
RefLoc          Science 293:300-303 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 38859
Feature           /change: t -> c
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 2465
Feature           /codon: ttg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 706
Feature           /change: L -> S
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
Symptoms        BCG vaccination:
Symptoms           BCG vaccinated: Yes; infected by BCG: Yes
Sex             XX
Age             33
Ethnic origin   Caucasoid; France
//
ID              L706S(2),?; ; MUTATION;
Accession       S0002
Systematic name Allele 1: g.38859T>C, c.2313T>C, p.L706S
Original code   P2
Description     Allele 1: point mutation in the exon 23 leading to an 
Description     amino acid change
Date            02-Oct-2002 (Rel. 1, Created)
Date            05-Jun-2008 (Rel. 1, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11452125
RefAuthors      Dupuis, S., Dargemont, C., Fieschi, C., Thomassin, N., 
RefAuthors      Rosenzweig, S., Harris, J., Holland, S. M., Schreiber, R. 
RefAuthors      D., Casanova, J. L.
RefTitle        Impairment of mycobacterial but not viral immunity by a 
RefTitle        germline human STAT1 mutation.
RefLoc          Science 293:300-303 (2001)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0081: 38859
Feature           /change: t -> c
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0081: 2465
Feature           /codon: ttg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P42224; STAT1_HUMAN: 706
Feature           /change: L -> S
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
Symptoms        Mycobacterial infections:
Symptoms           M. avium complex (MAC);
Sex             XX
Age             6
Ethnic origin   American
//
//

This site is updated by Jouni Väliaho
© IBT Bioinformatics 1998-2013
Last modified 16.06.2011