Paralogue Annotation for RYR2 residue 2228

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2228
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2228

No paralogue variants have been mapped to residue 2228 for RYR2.



RYR2RFLCYFCRISRQNQKAMFDHLSYLLENSSV>G<LASPAMRGSTPLDVAAASVMDNNELALALR2258
RYR1RFLCYFCRISRQNQRSMFDHLSYLLENSGI>G<--L-GMQGSTPLDVAAASVIDNNELALALQ2291
RYR3RFLCYFCRISRQNQKAMFEHLSYLLENSSV>G<LASPSMRGSTPLDVAASSVMDNNELALSLE2155
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G2228Vc.6683G>T Inherited ArrhythmiaLQTSSIFT: tolerated
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