Variant position: 1562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2758 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 VESCIRVLSDVAKSRAIAIP VDLDSQVNNLFLKSHSIVQKT
Mouse VESCIRVLSDVAKSRAIAIP VDLDSQVNNLFLKSHNIVQKT
Rat VESCIRVLSDVAKSRAIAIP VDLDSQVNNLFLKSHNIVQKT
Bovine VESCIRVLSDVAKSRAIAIP VDLDSQVNNLFLKSHNLVQKT
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 – 2758 Inositol 1,4,5-trisphosphate receptor type 1
1 – 2282 Cytoplasmic
1581 – 1581 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Huang L.; Chardon J.W.; Carter M.T.; Friend K.L.; Dudding T.E.; Schwartzentruber J.; Zou R.; Schofield P.W.; Douglas S.; Bulman D.E.; Boycott K.M.;
Orphanet J. Rare Dis. 7:67-67(2012)
Cited for: VARIANTS SCA29 ASP-602 AND MET-1562;
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
Shadrina M.I.; Shulskaya M.V.; Klyushnikov S.A.; Nikopensius T.; Nelis M.; Kivistik P.A.; Komar A.A.; Limborska S.A.; Illarioshkin S.N.; Slominsky P.A.;
Cerebellum Ataxias 3:2-2(2016)
Cited for: VARIANT SCA29 MET-1562;
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.