No paralogue variants have been mapped to residue 4002 for RYR2.
RYR2 | MDLQKDMVVMLLSMLEGNVVNGTIGKQMVD>M<LVESSNNVEMILKFFDMFLKLKDLTSSDTF | 4032 |
RYR1 | LDLQKDMVVMLLSLLEGNVVNGMIARQMVD>M<LVESSSNVEMILKFFDMFLKLKDIVGSEAF | 4076 |
RYR3 | LDLLQDMVVMLLSLLEGNVVNGTIGKQMVD>T<LVESSTNVEMILKFFDMFLKLKDLTSSDTF | 3928 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4002I | c.12006G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |