No paralogue variants have been mapped to residue 1488 for RYR1.
RYR1 | QHDMSFDLSKVRVVTVTMGDEQGNVHSSLK>C<SNCYMVWGGDFVSPGQQGRISHTDLVIGCL | 1518 |
RYR2 | QYDTGFDLDRVRTVTVTLGDEKGKVHESIK>R<SNCYMVCAGESMSPGQ-G-RNNNGLEIGCV | 1510 |
RYR3 | LYSEKFDLNKNCTVTVTLGDERGRVHESVK>R<SNCYMVWGGDIVASSQRSNRSNVDLEIGCL | 1414 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1488R | c.4462T>C | Putative Benign | SIFT: Polyphen: |