No paralogue variants have been mapped to residue 1783 for RYR1.
RYR1 | TENGHPRHGLPGVGVTTSLRPPHHFSPPCF>V<AALPAAGAAEAPARLSPAIPLEALRDKALR | 1813 |
RYR2 | ---ENKKHGLPGIGLSTSLRPRMQFSSPSF>V<SI------SNECYQYSPEFPLDILKSKTIQ | 1793 |
RYR3 | ---ESKRHGLPGVGLRTCLKPGFRFSTPCF>V<VT------GEDHQKQSPEIPLESLRTKALS | 1697 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1783M | c.5347G>A | Putative Benign | rs375160141 | SIFT: tolerated Polyphen: probably damaging | |
p.V1783L | c.5347G>T | Putative Benign | SIFT: Polyphen: |