No paralogue variants have been mapped to residue 2978 for RYR2.
RYR2 | RGKGEHFPYEQEIKFFAKVVLPLIDQYFKN>H<RLYFLSAASRPLCSGGHASNKEKEMVTSLF | 3008 |
RYR1 | SGRVEKSPHEQEIKFFAKILLPLINQYFTN>H<CLYFLSTPAKVLGSGGHASNKEKEMITSLF | 3043 |
RYR3 | SGKTEKSPRDQEIKFFAKVLLPLVDQYFTS>H<CLYFLSSPLKPLSSSGYASHKEKEMVAGLF | 2904 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2978L | c.8933A>T | Putative Benign | SIFT: Polyphen: |