No paralogue variants have been mapped to residue 2296 for RYR2.
RYR2 | VRYLAGCGLQSCQMLVSKGYPDIGWNPVEG>E<RYLDFLRFAVFCNGESVEENANVVVRLLIR | 2326 |
RYR1 | VSYLAGCGLQSCPMLVAKGYPDIGWNPCGG>E<RYLDFLRFAVFVNGESVEENANVVVRLLIR | 2359 |
RYR3 | VTYLAGCGLQSCPMLLAKGYPDVGWNPIEG>E<RYLSFLRFAVFVNSESVEENASVVVKLLIR | 2223 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2296Q | c.6886G>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | ||
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 |