Variant position: 108 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 SDEFLREDLNYH--DPTVKHST FHGEDKLISVEDLWKAWKSSE
Mouse SDEFLREDLNYH--DPTVKHST FHGEDKLISVEDLWKAWKS
Rat SDEFLREDLNYH--DPTVKHST FHGEDKLISVEDLWKAWKA
Bovine SDEFLREDLNYH--DPTVKHST FHGEDKLISVEDLWKAWKS
Caenorhabditis elegans STGFMKEDMQMRGSERTRRENK FHGDDDAITVDDLWEAWFE
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
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.
102 – 108
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Boehm J.; Chevessier F.; Koch C.; Peche G.A.; Mora M.; Morandi L.; Pasanisi B.; Moroni I.; Tasca G.; Fattori F.; Ricci E.; Penisson-Besnier I.; Nadaj-Pakleza A.; Fardeau M.; Joshi P.R.; Deschauer M.; Romero N.B.; Eymard B.; Laporte J.;
J. Med. Genet. 51:824-833(2014)
Cited for: VARIANTS TAM1 THR-80; VAL-96; ILE-108; LEU-108 AND ASN-109; CHARACTERIZATION OF VARIANTS TAM1 THR-80; VAL-96; ILE-108; LEU-108 AND ASN-109; FUNCTION; SUBCELLULAR LOCATION;
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.