Paralogue Annotation for RYR2 residue 243

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 243
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 243

No paralogue variants have been mapped to residue 243 for RYR2.



RYR2SVAPISSGSEAAQGYLIGGDVLRLLHGHMD>E<CLTVPSGEHGEEQRRTVHYEGGAVSVHARS273
RYR1NMNPICSR--CEEGFVTGGHVLRLFHGHMD>E<CLTISPAD-SDDQRRLVYYEGGAVCTHARS257
RYR3NVHPTCSGSSIEEGYLLGGHVVRLFHGH-D>E<CLTIPSTDQNDSQHRRIFYEAGGAGTRARS262
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E243Kc.727G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015
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
p.E243Gc.728A>G Putative BenignSIFT:
Polyphen: