Paralogue Annotation for RYR2 residue 4821

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4821
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4821

No paralogue variants have been mapped to residue 4821 for RYR2.



RYR2KFYNKSEDGDTPDMKCDDMLTCYMFHMYVG>V<RAGGGIGDEIEDPAGDEYEIYRIIFDITFF4851
RYR1KFYNKSEDEDEPDMKCDDMMTCYLFHMYVG>V<RAGGGIGDEIEDPAGDEYELYRVVFDITFF4922
RYR3KFYNKSEDDDEPDMKCDDMMTCYLFHMYVG>V<RAGGGIGDEIEDPAGDPYEMYRIVFDITFF4754
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4821Ic.14461G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517. 22787013
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