Paralogue Annotation for RYR2 residue 2192

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2192
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2192

No paralogue variants have been mapped to residue 2192 for RYR2.



RYR2MRALGMHETVMEVMVNVLGGGESKEITFPK>M<VANCCRFLCYFCRISRQNQKAMFDHLSYLL2222
RYR1MRALGMHETVMEVMVNVLGGGESKEIRFPK>M<VTSCCRFLCYFCRISRQNQRSMFDHLSYLL2258
RYR3MRVLGMHETVMEVMVNVLGT-EKSQIAFPK>M<VASCCRFLCYFCRISRQNQKAMFEHLSYLL2119
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M2192Lc.6574A>T Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086