No paralogue variants have been mapped to residue 1502 for RYR2.
RYR2 | GKVHESIKRSNCYMVCAGESMSPGQ-G-RN>N<NGLEIGCVVDAASGLLTFIANGKELSTYYQ | 1532 |
RYR1 | GNVHSSLKCSNCYMVWGGDFVSPGQQGRIS>H<TDLVIGCLVDLATGLMTFTANGKESNTFFQ | 1540 |
RYR3 | GRVHESVKRSNCYMVWGGDIVASSQRSNRS>N<VDLEIGCLVDLAMGMLSFSANGKELGTCYQ | 1436 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1502D | c.4504A>G | Putative Benign | SIFT: Polyphen: |