No paralogue variants have been mapped to residue 4607 for RYR2.
RYR2 | ILHTVISFFCIIGYYCLKVPLVIFKREKEV>A<RKLEFDGLYITEQPSEDDIKGQWDRLVINT | 4637 |
RYR1 | LLHTLVAFLCIIGYNCLKVPLVIFKREKEL>A<RKLEFDGLYITEQPEDDDVKGQWDRLVLNT | 4709 |
RYR3 | IIHTIISLVCVVGYYCLKVPLVVFKREKEI>A<RKLEFDGLYITEQPSEDDIKGQWDRLVINT | 4542 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4607P | c.13819G>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. Clin Chem. 2004 50(7):1148-55. 15131021 | ||
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 |