No paralogue variants have been mapped to residue 1500 for RYR2.
RYR2 | EKGKVHESIKRSNCYMVCAGESMSPGQ-G->R<NNNGLEIGCVVDAASGLLTFIANGKELSTY | 1530 |
RYR1 | EQGNVHSSLKCSNCYMVWGGDFVSPGQQGR>I<SHTDLVIGCLVDLATGLMTFTANGKESNTF | 1538 |
RYR3 | ERGRVHESVKRSNCYMVWGGDIVASSQRSN>R<SNVDLEIGCLVDLAMGMLSFSANGKELGTC | 1434 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1500C | c.4498C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1500H | c.4499G>A | Putative Benign | SIFT: Polyphen: |