No paralogue variants have been mapped to residue 2785 for RYR1.
RYR1 | INKFAEYTHEKWAFDKIQNNWSYGENIDEE>L<KTHPMLRPYKTFSEKDKEIYRWPIKESLKA | 2815 |
RYR2 | INKYAEHSHDKWSMDKLANGWIYGEIYSDS>S<KVQPLMKPYKLLSEKEKEIYRWPIKESLKT | 2781 |
RYR3 | VTKYAEHSHDKWACDKSQSGWKYGISLDEN>V<KTHPLIRPFKTLTEKEKEIYRWPARESLKT | 2678 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2785V | c.8353C>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. Anesth Analg. 2009 109(4):1273-7. 19762757 |