No paralogue variants have been mapped to residue 462 for RYR1.
RYR1 | GTALPIEGVILSLQDLIIYFEPPSEDLQHE>E<KQSKLRSLRNRQSLFQEEGMLSMVLNCIDR | 492 |
RYR2 | TVDLPIESVSLSLQDLIGYFHPPDEHLEHE>D<KQNRLRALKNRQNLFQEEGMINLVLECIDR | 504 |
RYR3 | PITLPIEEVLQTLQDLIAYFQPPEEEMRHE>D<KQNKLRSLKNRQNLFKEEGMLALVLNCIDR | 491 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E462K | c.1384G>A | Putative Benign | rs199592055 | SIFT: Polyphen: probably damaging |