Paralogue Annotation for RYR2 residue 3990

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3990
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3990

No paralogue variants have been mapped to residue 3990 for RYR2.



RYR2QDSSQIELLKELMDLQKDMVVMLLSMLEGN>V<VNGTIGKQMVDMLVESSNNVEMILKFFDMF4020
RYR1QDSSQIELLKELLDLQKDMVVMLLSLLEGN>V<VNGMIARQMVDMLVESSSNVEMILKFFDMF4064
RYR3QDSSQIELLKELLDLLQDMVVMLLSLLEGN>V<VNGTIGKQMVDTLVESSTNVEMILKFFDMF3916
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V3990Dc.11969T>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665
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