No paralogue variants have been mapped to residue 785 for RYR2.
RYR2 | ISCCLDLSAPSISFRINGQPVQGMFENFNI>D<GLFFPVVSFSAGIKVRFLLGGRHGEFKFLP | 815 |
RYR1 | ISCCLDLSVPSISFRINGCPVQGVFESFNL>D<GLFFPVVSFSAGVKVRFLLGGRHGEFKFLP | 803 |
RYR3 | VSCCLDLGVPSISFRINGQPVQGMFENFNT>D<GLFFPVMSFSAGVKVRFLMGGRHGEFKFLP | 802 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D785N | c.2353G>A | Putative Benign | SIFT: Polyphen: |