Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.I403M | c.1209C>G |
Other Myopathy | | rs118192116 | SIFT: Polyphen: |
Reports | Other Myopathy | |
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 5(1):51-5.
8220423 |
Other Myopathy | |
Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J Gen Physiol. 2001 118(3):277-90.
11524458 |
Other Myopathy | |
Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501.
23422674 |
Other Myopathy | |
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9.
9334205 |
Other Myopathy | |
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702.
9873004 |
Unknown | |
Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180.
22009146 |