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.

RYR2	SWKSILNSLYELLAALIRGNRKNCAQFSGS>L<DWLISRLERLEASSGILEVLHCVLVESPEA	585
RYR1	SWKEIVNLLYELLASLIRGNRSNCALFSTN>L<DWLVSKLDRLEASSGILEVLYCVLIESPEV	573
RYR3	AWKEILNLLYKLLAALIRGNRNNCAQFSNN>L<DWLISKLDRLESSSGILEVLHCILTESPEA	572
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L555V	c.1663C>G	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other 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