No paralogue variants have been mapped to residue 1058 for RYR1.
RYR1 | EATKRSNRDSLCQAVRTLLGYGYNIEPPDQ>E<P-SQVEN-QSRCDRVRIFRAEKSYTVQSGR | 1086 |
RYR2 | DRTKKSNKDSLREAVRTLLGYGYNLEAPDQ>D<HAARAEVCSGTGERFRIFRAEKTYAVKAGR | 1100 |
RYR3 | ERTKKSNRDSLREAVRTFVGYGYNIEPSDQ>E<L-ADSAVEKVSIDKIRFFRVERSYAVRSGK | 1086 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1058K | c.3172G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010 111(1):185-90. 20142353 |