Paralogue Annotation for RYR2 residue 2306

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2306
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2306

No paralogue variants have been mapped to residue 2306 for RYR2.



RYR2SCQMLVSKGYPDIGWNPVEGERYLDFLRFA>V<FCNGESVEENANVVVRLLIRRPECFGPALR2336
RYR1SCPMLVAKGYPDIGWNPCGGERYLDFLRFA>V<FVNGESVEENANVVVRLLIRKPECFGPALR2369
RYR3SCPMLLAKGYPDVGWNPIEGERYLSFLRFA>V<FVNSESVEENASVVVKLLIRRPECFGPALR2233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2306Ic.6916G>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Eur J Hum Genet. 2003 11(11):888-91. 14571276
Inherited ArrhythmiaCPVT Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001 103(4):485-90. 11157710
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
p.Val2306Leuc.6916G>C UnknownSIFT:
Polyphen: