No paralogue variants have been mapped to residue 3638 for RYR2.
RYR2 | LYNLPRHRAVNLFLQGYEKSWIETEEHYFE>D<KLIEDLAKPG-AEPPEEDEGTKRVDPLHQL | 3667 |
RYR1 | LYNLPTHRACNMFLESYKAAWILTEDHSFE>D<RMIDDLSKAGEQEEEEEEVEEKKPDPLHQL | 3701 |
RYR3 | LYNLPRHRSINLFLHGYQRFWIETEEYSFE>E<KLVQDLAKSPKVEEEEEEETEKQPDPLHQI | 3556 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3638A | c.10913A>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |