Paralogue Annotation for RYR2 residue 2254

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2254
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2254

No paralogue variants have been mapped to residue 2254 for RYR2.



RYR2NSSVGLASPAMRGSTPLDVAAASVMDNNEL>A<LALREPDLEKVVRYLAGCGLQSCQMLVSKG2284
RYR1NSGIG--L-GMQGSTPLDVAAASVIDNNEL>A<LALQEQDLEKVVSYLAGCGLQSCPMLVAKG2317
RYR3NSSVGLASPSMRGSTPLDVAASSVMDNNEL>A<LSLEEPDLEKVVTYLAGCGLQSCPMLLAKG2181
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2254Vc.6761C>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005 112(2):207-13. 15998675
Inherited 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 Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005 42(11):863-70. 16272262
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