Paralogue Annotation for RYR2 residue 1051

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1051
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1051

No paralogue variants have been mapped to residue 1051 for RYR2.



RYR2QQDVKNRRNPRLVPYTLLDDRTKKSNKDSL>R<EAVRTLLGYGYNLEAPDQDHAARAEVCSGT1081
RYR1VQDIPARRNPRLVPYRLLDEATKRSNRDSL>C<QAVRTLLGYGYNIEPPDQEP-SQVEN-QSR1067
RYR3QQDLKNKRNPRLVPYALLDERTKKSNRDSL>R<EAVRTFVGYGYNIEPSDQEL-ADSAVEKVS1067
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1051Hc.3152G>A Putative BenignSIFT: tolerated
Polyphen: probably damaging
ReportsUnknown The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780
p.R1051Pc.3152G>C Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. BMC Med Genet. 2009 10:12. 19216760
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.R1051Cc.3151C>T Putative BenignSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510