No paralogue variants have been mapped to residue 522 for RYR1.
| RYR1 | RLNVYTTAAHFAEFAGEEAAESWKEIVNLL>Y<ELLASLIRGNRSNCALFSTNLDWLVSKLDR | 552 |
| RYR2 | RLHVYSSAAHFADVAGREAGESWKSILNSL>Y<ELLAALIRGNRKNCAQFSGSLDWLISRLER | 564 |
| RYR3 | RLNVYNSVAHFAGIAREESGMAWKEILNLL>Y<KLLAALIRGNRNNCAQFSNNLDWLISKLDR | 551 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y522S | c.1565A>C | Other Myopathy | rs118192162 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics. 1994 23(1):236-9. 7829078 | |||
| 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 | Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. J Physiol. 2011 589(Pt 19):4649-69. doi: 10.1113/jphysiol.2011.210 21825032 | ||||
| Other Myopathy | Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? Trends Cardiovasc Med. 2002 12(5):189-97. 12161072 | ||||
| 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 | ||||
| Other Myopathy | Gain of function in the immune system caused by a ryanodine receptor 1 mutation. J Cell Sci. 2013 126(Pt 15):3485-92. doi: 10.1242/jcs.130310. 23704352 | ||||
| p.Y522C | c.1565A>G | Other Myopathy | rs118192162 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C). Anesth Analg. 2005 101(5):1401-6. 16244001 | |||