Paralogue Annotation for RYR2 residue 2605

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2605
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2605

No paralogue variants have been mapped to residue 2605 for RYR2.



RYR2SICGQLRPSMMQHLLRRLVFDVPLLNEHAK>M<PLKLLTNHYERCWKYYCLPGGWGNFGAASE2635
RYR1SLCRYIRPSMLQHLLRRLVFDVPILNEFAK>M<PLKLLTNHYERCWKYYCLPTGWANFGVTSE2669
RYR3AICNHLRPSMLQQLLRRLVFDVPQLNEYCK>M<PLKLLTNHYEQCWKYYCLPSGWGSYGLAVE2532
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M2605Vc.7813A>G Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517. 22787013
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