Paralogue Annotation for RYR2 residue 4158

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4158
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4158

No paralogue variants have been mapped to residue 4158 for RYR2.



RYR2YFQPFLGRIEIMGSAKRIERVYFEISESSR>T<QWEKPQVKESKRQFIFDVVNEGGEKEKMEL4188
RYR1YFRPYLGRIEIMGASRRIERIYFEISETNR>A<QWEMPQVKESKRQFIFDVVNEGGEAEKMEL4232
RYR3YFEPYLGRIEIMGGAKKIERVYFEISESSR>T<QWEKPQVKESKRQFIFDVVNEGGEQEKMEL4084
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T4158Pc.12472A>C Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004 79(11):1380-4. 15544015
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
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