Variant position: 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 301 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 STSGITPGQAAAIASTTIMV PFGLIFIVFAVHFYRSLVSHK
Mouse DSSGITPGEAAAIASTAIMV PCGLVFIVFAVHFYRSLVSHK
Rat NNGGITPGEAAAIASTAIMV PCGLVFIVFAVHFYRSLVSHK
Chicken SNSSITSGQAAAIASTSIMV PFGLIFIVFAVHFYRSLVSHK
Xenopus laevis ETSAVSSGQAAAITSTAIMV PFGLVFIVFAVHFYRSLVSHK
Zebrafish KNGTVSAGVAAAITSTSIMV PFGLVFIVFAVHFYRSLVSHK
Drosophila ----------AAWSACVVLI PVMIIFMAFAIHFYRSLVSHK
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
1 – 301 Calcium release-activated calcium channel protein 1
235 – 255 Helical
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Nesin V.; Wiley G.; Kousi M.; Ong E.C.; Lehmann T.; Nicholl D.J.; Suri M.; Shahrizaila N.; Katsanis N.; Gaffney P.M.; Wierenga K.J.; Tsiokas L.;
Proc. Natl. Acad. Sci. U.S.A. 111:4197-4202(2014)
Cited for: FUNCTION; INVOLVEMENT IN TAM2; VARIANT TAM2 LEU-245; CHARACTERIZATION OF VARIANT TAM2 LEU-245;
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.