No paralogue variants have been mapped to residue 2966 for RYR2.
RYR2 | HQYILEFDGG-SRGKGEHFPYEQEIKFFAK>V<VLPLIDQYFKNHRLYFLSAASRPLCSGGHA | 2996 |
RYR1 | QEFIAHLEAVVSSGRVEKSPHEQEIKFFAK>I<LLPLINQYFTNHCLYFLSTPAKVLGSGGHA | 3031 |
RYR3 | QEFIAHLEAIVSSGKTEKSPRDQEIKFFAK>V<LLPLVDQYFTSHCLYFLSSPLKPLSSSGYA | 2892 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2966A | c.8897T>C | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |