No paralogue variants have been mapped to residue 1497 for RYR1.
RYR1 | KVRVVTVTMGDEQGNVHSSLKCSNCYMVWG>G<DFVSPGQQGRISHTDLVIGCLVDLATGLMT | 1527 |
RYR2 | RVRTVTVTLGDEKGKVHESIKRSNCYMVCA>G<ESMSPGQ-G-RNNNGLEIGCVVDAASGLLT | 1519 |
RYR3 | KNCTVTVTLGDERGRVHESVKRSNCYMVWG>G<DIVASSQRSNRSNVDLEIGCLVDLAMGMLS | 1423 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1497R | c.4489G>A | Putative Benign | rs367637223 | SIFT: deleterious Polyphen: probably damaging |