No paralogue variants have been mapped to residue 1512 for RYR2.
RYR2 | NCYMVCAGESMSPGQ-G-RNNNGLEIGCVV>D<AASGLLTFIANGKELSTYYQVEPSTKLFPA | 1542 |
RYR1 | NCYMVWGGDFVSPGQQGRISHTDLVIGCLV>D<LATGLMTFTANGKESNTFFQVEPNTKLFPA | 1550 |
RYR3 | NCYMVWGGDIVASSQRSNRSNVDLEIGCLV>D<LAMGMLSFSANGKELGTCYQVEPNTKVFPA | 1446 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1512G | c.4535A>G | Putative Benign | rs79956707 | SIFT: deleterious Polyphen: probably damaging |