No paralogue variants have been mapped to residue 1514 for RYR2.
RYR2 | YMVCAGESMSPGQ-G-RNNNGLEIGCVVDA>A<SGLLTFIANGKELSTYYQVEPSTKLFPAVF | 1544 |
RYR1 | YMVWGGDFVSPGQQGRISHTDLVIGCLVDL>A<TGLMTFTANGKESNTFFQVEPNTKLFPAVF | 1552 |
RYR3 | YMVWGGDIVASSQRSNRSNVDLEIGCLVDL>A<MGMLSFSANGKELGTCYQVEPNTKVFPAVF | 1448 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1514V | c.4541C>T | Putative Benign | SIFT: Polyphen: |