No paralogue variants have been mapped to residue 1507 for RYR1.
RYR1 | DEQGNVHSSLKCSNCYMVWGGDFVSPGQQG>R<ISHTDLVIGCLVDLATGLMTFTANGKESNT | 1537 |
RYR2 | DEKGKVHESIKRSNCYMVCAGESMSPGQ-G>-<RNNNGLEIGCVVDAASGLLTFIANGKELST | 1529 |
RYR3 | DERGRVHESVKRSNCYMVWGGDIVASSQRS>N<RSNVDLEIGCLVDLAMGMLSFSANGKELGT | 1433 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1507W | c.4519C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1507Q | c.4520G>A | Putative Benign | SIFT: Polyphen: |