Paralogue Annotation for RYR2 residue 4645

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4645
Reference Amino Acid: W - Tryptophan
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4645

No paralogue variants have been mapped to residue 4645 for RYR2.



RYR2LYITEQPSEDDIKGQWDRLVINTQSFPNNY>W<DKFVKRKVMDKYGEFYGRDRISELLGMDKA4675
RYR1LYITEQPEDDDVKGQWDRLVLNTPSFPSNY>W<DKFVKRKVLDKHGDIYGRERIAELLGMDLA4747
RYR3LYITEQPSEDDIKGQWDRLVINTPSFPNNY>W<DKFVKRKVINKYGDLYGAERIAELLGLDKN4580
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W4645Rc.13933T>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Genetic characterization of familial CPVT after 30 years. Biol Res Nurs. 2009 11(1):66-72. 19398417
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
Inherited ArrhythmiaCPVT RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159
Other Cardiac Phenotype Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. Circ Cardiovasc Genet. 2016 9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. 27114410