No paralogue variants have been mapped to residue 4187 for RYR2.
RYR2 | RTQWEKPQVKESKRQFIFDVVNEGGEKEKM>E<LFVNFCEDTIFEMQLAAQISESDLNERSAN | 4217 |
RYR1 | RAQWEMPQVKESKRQFIFDVVNEGGEAEKM>E<LFVSFCEDTIFEMQIAAQISEPEGEPETDE | 4261 |
RYR3 | RTQWEKPQVKESKRQFIFDVVNEGGEQEKM>E<LFVNFCEDTIFEMQLASQISESDSADRPEE | 4113 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4187Q | c.12559G>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005 112(2):207-13. 15998675 | ||
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 | |||
p.Glu4187Lys | c.12559G>A | Unknown | SIFT: Polyphen: |