Dtabase STIM1base
Version 1.0
File stim1pub.html
Date 08-Apr-2013
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/STIM1base/
Gene STIM1
Disease Stromal interaction molecule 1 deficiency
OMIM 605921
Sequence IdRefSeq:D0131; IdRefSeq:C0131;
Sequence UniProt:Q13586
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Funding Finnish Academy
Comments sequence entry reference in every entry
//
ID E136X(1),E136X(1); standard; MUTATION;
Accession S0001
Systematic name Allele 1 and 2: g.200844G>T, c.406G>T, r.406g>u, p.Glu136X
Original code V-1
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19420366
RefAuthors Picard, C., McCarl, C. A., Papolos, A., Khalil, S., Luthy,
RefAuthors K., Hivroz, C., LeDeist, F., Rieux-Laucat, F., Rechavi,
RefAuthors G., Rao, A., Fischer, A., Feske, S.
RefTitle STIM1 mutation associated with a syndrome of
RefTitle immunodeficiency and autoimmunity.
RefLoc N Engl J Med:1971-1980 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0131: 200844
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0131; GI:221316745; : 974
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q13586; STIM1_HUMAN: 136
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0131: 200844
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0131; GI:221316745; : 974
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q13586; STIM1_HUMAN: 136
Feature /change: E -> X
Symptoms Sepsis
Symptoms Bacterial: E. coli; S. pneumoniae;
Symptoms Viral: CMV; VZV;
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Autoimmune manifestations
Symptoms Autoimmune hemolytic anemia
Symptoms Other clinical features: Urinary tract infection;
Symptoms Pneumonia; Lymphadenopathy; Hepatosplenomegaly; Muscular
Symptoms hypotonia; Partial iris hypoplasia; Abnormal dental enamel;
Sex XX
//
ID E136X(2),E136X(2); standard; MUTATION;
Accession S0002
Systematic name Allele 1 and 2: g.200844G>T, c.406G>T, r.406g>u, p.Glu136X
Original code V-7
Description Allele 1 and 2: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19420366
RefAuthors Picard, C., McCarl, C. A., Papolos, A., Khalil, S., Luthy,
RefAuthors K., Hivroz, C., LeDeist, F., Rieux-Laucat, F., Rechavi,
RefAuthors G., Rao, A., Fischer, A., Feske, S.
RefTitle STIM1 mutation associated with a syndrome of
RefTitle immunodeficiency and autoimmunity.
RefLoc N Engl J Med:1971-1980 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0131: 200844
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0131; GI:221316745; : 974
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q13586; STIM1_HUMAN: 136
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0131: 200844
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0131; GI:221316745; : 974
Feature /codon: gag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q13586; STIM1_HUMAN: 136
Feature /change: E -> X
Symptoms Hematological abnormalities
Symptoms Thrombocytopenia
Symptoms Other clinical features: Sepsis; Muscular hypotonia;
Symptoms Partial hypoplasia; Abnormal dental enamel; Hypoglycemia;
Sex XY
//
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