Paralogue Annotation for RYR2 residue 3861

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3861
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3861

No paralogue variants have been mapped to residue 3861 for RYR2.



RYR2QDDEFTCDLFRFLQLLCEGHNSDFQNYLRT>Q<TGNNTTVNIIISTVDYLLRVQESISDFYWY3891
RYR1ADDEFTQDLFRFLQLLCEGHNNDFQNYLRT>Q<TGNTTTINIIICTVDYLLRLQESISDFYWY3935
RYR3QNDEFTRDLFRFLQLLCEGHNSDFQNFLRT>Q<MGNTTTVNVIISTVDYLLRLQESISDFYWY3787
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q3861Hc.11583G>C Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086
p.Q3861Hc.11583G>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086