No paralogue variants have been mapped to residue 786 for RYR1.
RYR1 | FRINGCPVQGVFESFNLDGLFFPVVSFSAG>V<KVRFLLGGRHGEFKFLPPPGYAPCHEAVLP | 816 |
RYR2 | FRINGQPVQGMFENFNIDGLFFPVVSFSAG>I<KVRFLLGGRHGEFKFLPPPGYAPCYEAVLP | 828 |
RYR3 | FRINGQPVQGMFENFNTDGLFFPVMSFSAG>V<KVRFLMGGRHGEFKFLPPSGYAPCYEALLP | 815 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V786I | c.2356G>A | Putative Benign | rs369281291 | SIFT: tolerated Polyphen: benign |