Paralogue Annotation for RYR2 residue 2534

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2534
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2534

No paralogue variants have been mapped to residue 2534 for RYR2.



RYR2TAALSATDMALALNRYLCTAVLPLLTRCAP>L<FAGTEHHASLIDSLLHTVYRLSKGCSLTKA2564
RYR1TATFSTTEMALALNRYLCLAVLPLITKCAP>L<FAGTEHRAIMVDSMLHTVYRLSRGRSLTKA2598
RYR3TVSLSTTEAALALNRYICSAVLPLLTRCAP>L<FAGTEHCTSLIDSTLQTIYRLSKGRSLTKA2461
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2534Vc.7600C>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder. J Cardiovasc Electrophysiol. 2004 15(6):729. 15175074
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