No paralogue variants have been mapped to residue 786 for RYR2.
RYR2 | SCCLDLSAPSISFRINGQPVQGMFENFNID>G<LFFPVVSFSAGIKVRFLLGGRHGEFKFLPP | 816 |
RYR1 | SCCLDLSVPSISFRINGCPVQGVFESFNLD>G<LFFPVVSFSAGVKVRFLLGGRHGEFKFLPP | 804 |
RYR3 | SCCLDLGVPSISFRINGQPVQGMFENFNTD>G<LFFPVMSFSAGVKVRFLMGGRHGEFKFLPP | 803 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G786D | c.2357G>A | Putative Benign | rs182778119 | SIFT: deleterious Polyphen: probably damaging |