Database STAT1base
Version 1.1
File stat1pub.txt
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/STAT1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF70.html
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
//
//
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