No paralogue variants have been mapped to residue 1837 for RYR2.
RYR2 | RDPVGGTTEFLFVPLIKLFYTLLIMGIFHN>E<DLKHILQLIEPSVFKEAATPEEESDTL--E | 1865 |
RYR1 | RDPVGGSVEFQFVPVLKLVSTLLVMGIFGD>E<DVKQILKMIEPEVFTEEEEEEDEEEEGEEE | 1887 |
RYR3 | RDPVGGSVEFQFVPVLKLIGTLLVMGVFDD>D<DVRQILLLIDPSVFGEHSAGTEEGAEK--E | 1769 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1837K | c.5509G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: benign | |
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 |