No paralogue variants have been mapped to residue 2628 for RYR2.
RYR2 | LLNEHAKMPLKLLTNHYERCWKYYCLPGGW>G<NFGAASEEELHLSRKLFWGIFDALSQKKYE | 2658 |
RYR1 | ILNEFAKMPLKLLTNHYERCWKYYCLPTGW>A<NFGVTSEEELHLTRKLFWGIFDSLAHKKYD | 2692 |
RYR3 | QLNEYCKMPLKLLTNHYEQCWKYYCLPSGW>G<SYGLAVEEELHLTEKLFWGIFDSLSHKKYD | 2555 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2628E | c.7883G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |