Paralogue Annotation for RYR2 residue 4431

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4431
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4431

No paralogue variants have been mapped to residue 4431 for RYR2.



RYR2-PVPMPE-V-QEKFQEQ--KA---KEEEKE>E<KEETKSEPEKAEGEDGEKEEKAKEDKGKQK4461
RYR1EPPTPEGSP-ILKRKLGVDGVEEELPPEPE>P<EPEPELEPEKADAENGEKEEVPEPTPEPPK4523
RYR3DEPPTLESTVQKKRKA---QA---AEMKAA>N<EAEGKVESEKADMEDGEKEDKDKEEEQAEY4364
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4431Kc.13291G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaCPVT Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142
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