No paralogue variants have been mapped to residue 1496 for RYR1.
RYR1 | SKVRVVTVTMGDEQGNVHSSLKCSNCYMVW>G<GDFVSPGQQGRISHTDLVIGCLVDLATGLM | 1526 |
RYR2 | DRVRTVTVTLGDEKGKVHESIKRSNCYMVC>A<GESMSPGQ-G-RNNNGLEIGCVVDAASGLL | 1518 |
RYR3 | NKNCTVTVTLGDERGRVHESVKRSNCYMVW>G<GDIVASSQRSNRSNVDLEIGCLVDLAMGML | 1422 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1496R | c.4486G>C | Putative Benign | SIFT: Polyphen: |