Paralogue Annotation for RYR2 residue 2045

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2045
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2045

No paralogue variants have been mapped to residue 2045 for RYR2.



RYR2LDGNSDLTIRGRLLSLVEKVTYLKKKQA-->E<KPVESDSKKSSTLQQLISETMVRWAQESVI2075
RYR1P--EEETTLGSRLMSLLEKVRLVKKKEEKP>E<EERSAEESKPRSLQELVSHMVVRWAQEDFV2111
RYR3E--EEDTSWTGKLCALVYKIKGPPKPEK-->E<QPTEEEERCPTTLKELISQTMICWAQEDQI1973
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2045Gc.6134A>G Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015
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