No paralogue variants have been mapped to residue 1492 for RYR1.
RYR1 | SFDLSKVRVVTVTMGDEQGNVHSSLKCSNC>Y<MVWGGDFVSPGQQGRISHTDLVIGCLVDLA | 1522 |
RYR2 | GFDLDRVRTVTVTLGDEKGKVHESIKRSNC>Y<MVCAGESMSPGQ-G-RNNNGLEIGCVVDAA | 1514 |
RYR3 | KFDLNKNCTVTVTLGDERGRVHESVKRSNC>Y<MVWGGDIVASSQRSNRSNVDLEIGCLVDLA | 1418 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y1492C | c.4475A>G | Putative Benign | SIFT: deleterious Polyphen: probably damaging |