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 |
cons | > < |
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 |