No paralogue variants have been mapped to residue 2402 for RYR2.
RYR2 | LDTEEEEDDTIHMGNAIMTFYSALIDLLGR>C<APEMHLIHAGKGEAIRIRSILRSLIPLGDL | 2432 |
RYR1 | FGEEPPEENRVHLGHAIMSFYAALIDLLGR>C<APEMHLIQAGKGEALRIRAILRSLVPLEDL | 2466 |
RYR3 | TGDDEEEEEIVHMGNAIMSFYSALIDLLGR>C<APEMHLIQTGKGEAIRIRSILRSLVPTEDL | 2329 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C2402Y | c.7205G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665 | ||
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 |