Paralogue Annotation for RYR2 residue 555

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 555
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 555

No paralogue variants have been mapped to residue 555 for RYR2.



RYR2SWKSILNSLYELLAALIRGNRKNCAQFSGS>L<DWLISRLERLEASSGILEVLHCVLVESPEA585
RYR1SWKEIVNLLYELLASLIRGNRSNCALFSTN>L<DWLVSKLDRLEASSGILEVLYCVLIESPEV573
RYR3AWKEILNLLYKLLAALIRGNRNNCAQFSNN>L<DWLISKLDRLESSSGILEVLHCILTESPEA572
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L555Vc.1663C>G Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J. 2013 13(4):325-9. doi: 10.1038/tpj.2012.14. 22584458