Paralogue Annotation for RYR2 residue 4771

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4771
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4771

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1V4842MMyopathy, congenital with coresHigh9 18253926, 23553787, 25637381

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.



RYR2AHLLDIAMGFKTLRTILSSVTHNGKQLVLT>V<GLLAVVVYLYTVVAFNFFRKFYNKSEDGDT4801
RYR1AHLLDIAMGVKTLRTILSSVTHNGKQLVMT>V<GLLAVVVYLYTVVAFNFFRKFYNKSEDEDE4872
RYR3AHLLDIAMGFKTLRTILSSVTHNGKQLVLT>V<GLLAVVVYLYTVVAFNFFRKFYNKSEDDDE4704
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4771Ic.14311G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772
Inherited ArrhythmiaCPVT Successful treatment of catecholaminergic polymorphic ventricular tachycardia with flecainide: a case report and review of the current literature. Europace. 2011 13(6):897-901. 21292648
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 Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086
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
Inherited ArrhythmiaCPVT Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. 24136861