No paralogue variants have been mapped to residue 4821 for RYR2.
RYR2 | KFYNKSEDGDTPDMKCDDMLTCYMFHMYVG>V<RAGGGIGDEIEDPAGDEYEIYRIIFDITFF | 4851 |
RYR1 | KFYNKSEDEDEPDMKCDDMMTCYLFHMYVG>V<RAGGGIGDEIEDPAGDEYELYRVVFDITFF | 4922 |
RYR3 | KFYNKSEDDDEPDMKCDDMMTCYLFHMYVG>V<RAGGGIGDEIEDPAGDPYEMYRIVFDITFF | 4754 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4821I | c.14461G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517. 22787013 | ||
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 |