No paralogue variants have been mapped to residue 4196 for RYR2.
RYR2 | KESKRQFIFDVVNEGGEKEKMELFVNFCED>T<IFEMQLAAQISESDLNERSANKEESEK--- | 4223 |
RYR1 | KESKRQFIFDVVNEGGEAEKMELFVSFCED>T<IFEMQIAAQISEPEGEPETDEDEGAGAAEA | 4270 |
RYR3 | KESKRQFIFDVVNEGGEQEKMELFVNFCED>T<IFEMQLASQISESDSADRPEEEEEDEDSSY | 4122 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4196A | c.12586A>G | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006 3(7):800-5. 16818210 | ||
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 |