Paralogue Annotation for RYR2 residue 466

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 466
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 466

No paralogue variants have been mapped to residue 466 for RYR2.



RYR2AKA----STVDLPIESVSLSLQDLIGYFHP>P<DEHLEHEDKQNRLRALKNRQNLFQEEGMIN496
RYR1PRGSGPPAGTALPIEGVILSLQDLIIYFEP>P<SEDLQHEEKQSKLRSLRNRQSLFQEEGMLS484
RYR3RTA----APITLPIEEVLQTLQDLIAYFQP>P<EEEMRHEDKQNKLRSLKNRQNLFKEEGMLA483
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P466Ac.1396C>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005 2(10):1099-105. 16188589
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
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381