No paralogue variants have been mapped to residue 3861 for RYR2.
RYR2 | QDDEFTCDLFRFLQLLCEGHNSDFQNYLRT>Q<TGNNTTVNIIISTVDYLLRVQESISDFYWY | 3891 |
RYR1 | ADDEFTQDLFRFLQLLCEGHNNDFQNYLRT>Q<TGNTTTINIIICTVDYLLRLQESISDFYWY | 3935 |
RYR3 | QNDEFTRDLFRFLQLLCEGHNSDFQNFLRT>Q<MGNTTTVNVIISTVDYLLRLQESISDFYWY | 3787 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q3861H | c.11583G>C | 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 | ||
p.Q3861H | c.11583G>T | 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 |