Paralogue Annotation for RYR2 residue 3977

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3977
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3977

No paralogue variants have been mapped to residue 3977 for RYR2.



RYR2FLHVFAHMQMKLSQDSSQIELLKELMDLQK>D<MVVMLLSMLEGNVVNGTIGKQMVDMLVESS4007
RYR1FLHVFAHMMMKLAQDSSQIELLKELLDLQK>D<MVVMLLSLLEGNVVNGMIARQMVDMLVESS4051
RYR3FLHVFANMQMKLSQDSSQIELLKELLDLLQ>D<MVVMLLSLLEGNVVNGTIGKQMVDTLVESS3903
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D3977Yc.11929G>T Inherited ArrhythmiaCPVTSIFT: deleterious
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