Paralogue Annotation for RYR2 residue 4851

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4851
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4851

No paralogue variants have been mapped to residue 4851 for RYR2.



RYR2VRAGGGIGDEIEDPAGDEYEIYRIIFDITF>F<FFVIVILLAIIQGLIIDAFGELRDQQEQVK4881
RYR1VRAGGGIGDEIEDPAGDEYELYRVVFDITF>F<FFVIVILLAIIQGLIIDAFGELRDQQEQVK4952
RYR3VRAGGGIGDEIEDPAGDPYEMYRIVFDITF>F<FFVIVILLAIIQGLIIDAFGELRDQQEQVR4784
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F4851Cc.14552T>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Human cardiac ryanodine receptor mutations in ion channel disorders in Japan. Int J Cardiol. 2007 116(2):263-5. 16843546
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.F4851Lc.14553C>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665
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