Paralogue Annotation for RYR2 residue 2404

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2404
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2404

No paralogue variants have been mapped to residue 2404 for RYR2.



RYR2TEEEEDDTIHMGNAIMTFYSALIDLLGRCA>P<EMHLIHAGKGEAIRIRSILRSLIPLGDLVG2434
RYR1EEPPEENRVHLGHAIMSFYAALIDLLGRCA>P<EMHLIQAGKGEALRIRAILRSLVPLEDLVG2468
RYR3DDEEEEEIVHMGNAIMSFYSALIDLLGRCA>P<EMHLIQTGKGEAIRIRSILRSLVPTEDLVG2331
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2404Tc.7210C>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Dual inheritance of sudden death from cardiovascular causes. N Engl J Med. 2008 358(19):2077-8. 18463390
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 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