Variant: rs483352867 

    present in Gene: STIM1
    present in Chromosome: 11
    Position on Chromosome: 4074620
    Alleles of this Variant: C/T

rs483352867 in STIM1 gene and Immune dysfunction with T-cell inactivation due to calcium entry defect 2 PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 24591628 2014 Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

PMID 28624464 2017 Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

rs483352867 in STIM1 gene and Stormorken Syndrome PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 28624464 2017 Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome.

PMID 24619930 2014 A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families.

PMID 24591628 2014 Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.

rs483352867 in STIM1 gene and Tubular Aggregate Myopathy PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 24591628 2014 Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.