No paralogue variants have been mapped to residue 2818 for RYR2.
RYR2 | ERTREGDSMALYNRTRRISQTSQV--SVDA>A<HGYSPRAIDMSNVTLSRDLHAMAEMMAENY | 2848 |
RYR1 | EKAREGEEEK--TEKKKTRKISQSAQTYDP>R<EGYNPQPPDLSAVTLSRELQAMAEQLAENY | 2882 |
RYR3 | ERTKEGEALVQQRENEKLRSVSQA--NQ-->G<NSYSPAPLDLSNVVLSRELQGMVEVVAENY | 2743 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala2818Val | c.8453C>T | Unknown | SIFT: Polyphen: |