No paralogue variants have been mapped to residue 3876 for RYR2.
RYR2 | LCEGHNSDFQNYLRTQTGNNTTVNIIISTV>D<YLLRVQESISDFYWYYSGKDVIDEQGQRNF | 3906 |
RYR1 | LCEGHNNDFQNYLRTQTGNTTTINIIICTV>D<YLLRLQESISDFYWYYSGKDVIEEQGKRNF | 3950 |
RYR3 | LCEGHNSDFQNFLRTQMGNTTTVNVIISTV>D<YLLRLQESISDFYWYYSGKDIIDESGQHNF | 3802 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3876E | c.11628C>G | 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 |