Paralogue Annotation for RYR2 residue 4670

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4670
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4670

No paralogue variants have been mapped to residue 4670 for RYR2.



RYR2FPNNYWDKFVKRKVMDKYGEFYGRDRISEL>L<GMDKAALDFSDAREKKKPKKDSSLSAVLNS4700
RYR1FPSNYWDKFVKRKVLDKHGDIYGRERIAEL>L<GMDLATLEITAHNER-KPNPPPGLLTWLMS4771
RYR3FPNNYWDKFVKRKVINKYGDLYGAERIAEL>L<GLDKNALDFSPVEET-KA-EAASLVSWLSS4603
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4670Hc.14009T>A Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Catecholaminergic polymorphic ventricular tachycardia in a patient with recurrent exertional syncope. Korean Circ J. 2012 42(2):129-32. 22396703
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.L4670Vc.14008C>G CardiomyopathySIFT:
Polyphen:
ReportsCardiomyopathyARVD/C Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964