Paralogue Annotation for RYR2 residue 4020

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4020
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4020

No paralogue variants have been mapped to residue 4020 for RYR2.



RYR2VVNGTIGKQMVDMLVESSNNVEMILKFFDM>F<LKLKDLTSSDTFKEYDPDGKGVISKRDFHK4050
RYR1VVNGMIARQMVDMLVESSSNVEMILKFFDM>F<LKLKDIVGSEAFQDYVTDPRGLISKKDFQK4094
RYR3VVNGTIGKQMVDTLVESSTNVEMILKFFDM>F<LKLKDLTSSDTFKEYDPDGKGIISKKEFQK3946
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F4020Lc.12058T>C Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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
p.F4020Lc.12060C>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665
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