Paralogue Annotation for RYR2 residue 400

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 400
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 400

No paralogue variants have been mapped to residue 400 for RYR2.



RYR2LWLTYQSVDVKSVRMGSIQRKAIMHHEGHM>D<DGISLSRSQHEESRTARVIRSTVFLFNRFI430
RYR1LWLTYAAPDPKALRLGVLKKKAMLHQEGHM>D<DALSLTRCQQEESQAARMIHSTNGLYNQFI414
RYR3LWVTYKAQDAKTSRLGPLKRKVILHQEGHM>D<DGLTLQRCQREESQAARIIRNTTALFSQFV422
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D400Hc.1198G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073
Inherited ArrhythmiaLQTS 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