Variant position: 4880 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4967 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 AIIQGLIIDAFGELRDQQEQ VKEDMETKCFICGIGNDYFDT
Mouse AIIQGLIIDAFGELRDQQEQ VKEDMETKCFICGIGNDYFDT
Rat AIIQGLIIDAFGELRDQQEQ VKEDMETKCFICGIGNDYFDT
Rabbit AIIQGLIIDAFGELRDQQEQ VKEDMETKCFICGIGNDYFDT
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 – 4967 Ryanodine receptor 2
4871 – 4967 Cytoplasmic
Gene symbol: RYR2. Disease: effort-induced polymorphic ventricular arrhythmias.
Bagattin A.; Veronese C.; Rampazzo A.; Danieli G.A.;
Hum. Genet. 114:404-404(2004)
Cited for: VARIANTS CPVT1 ILE-4504 AND ALA-4880;
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