No paralogue variants have been mapped to residue 2869 for RYR2.
RYR2 | AMAEMMAENYHNIWAKKKKMELESKGGGNH>P<LLVPYDTLTAKEKAKDREKAQDILKFLQIN | 2899 |
RYR1 | AMAEQLAENYHNTWGRKKKQELEAKGGGTH>P<LLVPYDTLTAKEKARDREKAQELLKFLQMN | 2933 |
RYR3 | GMVEVVAENYHNIWAKKKKLELESKGGGSH>P<LLVPYDTLTAKEKFKDREKAQDLFKFLQVN | 2794 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2869L | c.8606C>T | Putative Benign | rs374318917 | SIFT: deleterious Polyphen: probably damaging |