Variant position: 115 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 685 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DLNYH--DPTVKHSTFHGEDKL ISVEDLWKAWKSSEVYNWTVD
Mouse DLNYH--DPTVKHSTFHGEDKL ISVEDLWKAWKSSEVYNWT
Rat DLNYH--DPTVKHSTFHGEDKL ISVEDLWKAWKASEVYNWT
Bovine DLNYH--DPTVKHSTFHGEDKL ISVEDLWKAWKSSEVYNWT
Caenorhabditis elegans DMQMRGSERTRRENKFHGDDDA ITVDDLWEAWFESIERTWT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
23 – 685 Stromal interaction molecule 1
23 – 213 Extracellular
131 – 131 N-linked (GlcNAc...) asparagine
108 – 108 F -> D. Constitutive localization in punctae at the cell membrane and constitutive activation of CRAC channels; when associated with D-110.
110 – 110 G -> D. Constitutive localization in punctae at the cell membrane and constitutive activation of CRAC channels; when associated with D-108.
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Hedberg C.; Niceta M.; Fattori F.; Lindvall B.; Ciolfi A.; D'Amico A.; Tasca G.; Petrini S.; Tulinius M.; Tartaglia M.; Oldfors A.; Bertini E.;
J. Neurol. 261:870-876(2014)
Cited for: VARIANTS TAM1 ARG-109 AND PHE-115;
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Markello T.; Chen D.; Kwan J.Y.; Horkayne-Szakaly I.; Morrison A.; Simakova O.; Maric I.; Lozier J.; Cullinane A.R.; Kilo T.; Meister L.; Pakzad K.; Bone W.; Chainani S.; Lee E.; Links A.; Boerkoel C.; Fischer R.; Toro C.; White J.G.; Gahl W.A.; Gunay-Aygun M.;
Mol. Genet. Metab. 114:474-482(2015)
Cited for: VARIANTS STRMK PHE-115 AND TRP-304;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.