No paralogue variants have been mapped to residue 1493 for RYR1.
RYR1 | FDLSKVRVVTVTMGDEQGNVHSSLKCSNCY>M<VWGGDFVSPGQQGRISHTDLVIGCLVDLAT | 1523 |
RYR2 | FDLDRVRTVTVTLGDEKGKVHESIKRSNCY>M<VCAGESMSPGQ-G-RNNNGLEIGCVVDAAS | 1515 |
RYR3 | FDLNKNCTVTVTLGDERGRVHESVKRSNCY>M<VWGGDIVASSQRSNRSNVDLEIGCLVDLAM | 1419 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1493V | c.4477A>G | Putative Benign | SIFT: Polyphen: |