Paralogue Annotation for RYR2 residue 1810

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1810
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1810

No paralogue variants have been mapped to residue 1810 for RYR2.



RYR2PEFPLDILKSKTIQMLTEAVKEGSLHARDP>V<GGTTEFLFVPLIKLFYTLLIMGIFHNEDLK1840
RYR1PAIPLEALRDKALRMLGEAVRDGGQHARDP>V<GGSVEFQFVPVLKLVSTLLVMGIFGDEDVK1860
RYR3PEIPLESLRTKALSMLTEAVQCSGAHIRDP>V<GGSVEFQFVPVLKLIGTLLVMGVFDDDDVR1744
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1810Lc.5428G>C Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: possibly 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
Inherited ArrhythmiaCPVT RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. PLoS One. 2014 9(6):e101059. doi: 10.1371/journal.pone.0101059. e 24978818