No paralogue variants have been mapped to residue 3778 for RYR2.
RYR2 | KGETGPMVAATLKLGIAILNGGNSTVQQKM>L<DYLKEKKDVGFFQSLAGLMQSCSVLDLNAF | 3808 |
RYR1 | KGETGAMVSSTLKLGISILNGGNAEVQQKM>L<DYLKDKKEVGFFQSIQALMQTCSVLDLNAF | 3846 |
RYR3 | KGEMSPMVVETLKLGIAILNGGNAGVQQKM>L<DYLKEKKDAGFFQSLSGLMQSCSVLDLNAF | 3698 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3778F | c.11332C>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | ||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 |