No paralogue variants have been mapped to residue 552 for RYR1.
RYR1 | YELLASLIRGNRSNCALFSTNLDWLVSKLD>R<LEASSGILEVLYCVLIESPEVLNIIQENHI | 582 |
RYR2 | YELLAALIRGNRKNCAQFSGSLDWLISRLE>R<LEASSGILEVLHCVLVESPEALNIIKEGHI | 594 |
RYR3 | YKLLAALIRGNRNNCAQFSNNLDWLISKLD>R<LESSSGILEVLHCILTESPEALNLIAEGHI | 581 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R552W | c.1654C>T | Other Myopathy | rs193922770 | SIFT: Polyphen: | |
Reports | Other Myopathy | Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet. 1997 34(4):291-6. 9138151 | |||
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 | ||||
p.R552Q | c.1655G>A | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol. 2014 261(5):970-82. doi: 10.1007/s00415-014-7289-8. 24627108 |