Paralogue Annotation for RYR2 residue 2359

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2359
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2359

No paralogue variants have been mapped to residue 2359 for RYR2.



RYR2ECFGPALRGEGGNGLLAAMEEAIKIAEDPS>R<DGPSPNS-GSSKTLDTEEEEDDTIHMGNAI2388
RYR1ECFGPALRGEGGSGLLAAIEEAIRISEDPA>R<DGPGIRRDRRREHFGEEPPEENRVHLGHAI2422
RYR3ECFGPALRGEGGNGLLAAMQGAIKISENPA>L<DLPSQGY-KREVSTGDDEEEEEIVHMGNAI2285
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2359Qc.7076G>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Human cardiac ryanodine receptor mutations in ion channel disorders in Japan. Int J Cardiol. 2007 116(2):263-5. 16843546
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