Paralogue Annotation for RYR2 residue 4880

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4880
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4880

No paralogue variants have been mapped to residue 4880 for RYR2.



RYR2FFFFVIVILLAIIQGLIIDAFGELRDQQEQ>V<KEDMETKCFICGIGNDYFDTVPHGFETHTL4910
RYR1FFFFVIVILLAIIQGLIIDAFGELRDQQEQ>V<KEDMETKCFICGIGSDYFDTTPHGFETHTL4981
RYR3FFFFVIVILLAIIQGLIIDAFGELRDQQEQ>V<REDMETKCFICGIGNDYFDTTPHGFETHTL4813
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4880Ac.14639T>C Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. Clin Chem. 2004 50(7):1148-55. 15131021
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