Paralogue Annotation for RYR2 residue 1837

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1837
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1837

No paralogue variants have been mapped to residue 1837 for RYR2.



RYR2RDPVGGTTEFLFVPLIKLFYTLLIMGIFHN>E<DLKHILQLIEPSVFKEAATPEEESDTL--E1865
RYR1RDPVGGSVEFQFVPVLKLVSTLLVMGIFGD>E<DVKQILKMIEPEVFTEEEEEEDEEEEGEEE1887
RYR3RDPVGGSVEFQFVPVLKLIGTLLVMGVFDD>D<DVRQILLLIDPSVFGEHSAGTEEGAEK--E1769
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1837Kc.5509G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaCPVT 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 ArrhythmiaCPVT 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