Paralogue Annotation for RYR2 residue 4149

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4149
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4149

No paralogue variants have been mapped to residue 4149 for RYR2.



RYR2LELAESVLNYFQPFLGRIEIMGSAKRIERV>Y<FEISESSRTQWEKPQVKESKRQFIFDVVNE4179
RYR1LELAESILEYFRPYLGRIEIMGASRRIERI>Y<FEISETNRAQWEMPQVKESKRQFIFDVVNE4223
RYR3LDPAESVLNYFEPYLGRIEIMGGAKKIERV>Y<FEISESSRTQWEKPQVKESKRQFIFDVVNE4075
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y4149Cc.12446A>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
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