Variant position: 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 399 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 RIEDYIKLIGFFKSEDSEYY KAFEEAAEHFQPYIKFFATFD
Mouse RIEDQTKLLGFFKNEDSEYY KAFQEAAEHFQPYIKFFATFD
Rat RIEDQIKLLGFFKNEDSEYY KAFQEAAEHFQPYIKFFATFD
Rabbit RIEDHIKLIGFFKSADSEYY KAFEEAAEHFQPYIKFFATFD
Chicken QIDDEIKLIGYFKGEDSEHY KAFEEAAEHFQPYVKFFATFD
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
20 – 399 Calsequestrin-2
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
Gray B.; Bagnall R.D.; Lam L.; Ingles J.; Turner C.; Haan E.; Davis A.; Yang P.C.; Clancy C.E.; Sy R.W.; Semsarian C.;
Heart Rhythm 13:1652-1660(2016)
Cited for: VARIANT CPVT2 ARG-180;
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