No paralogue variants have been mapped to residue 533 for RYR1.
| RYR1 | AEFAGEEAAESWKEIVNLLYELLASLIRGN>R<SNCALFSTNLDWLVSKLDRLEASSGILEVL | 563 |
| RYR2 | ADVAGREAGESWKSILNSLYELLAALIRGN>R<KNCAQFSGSLDWLISRLERLEASSGILEVL | 575 |
| RYR3 | AGIAREESGMAWKEILNLLYKLLAALIRGN>R<NNCAQFSNNLDWLISKLDRLESSSGILEVL | 562 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R533H | c.1598G>A | Other Myopathy | rs144336148 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet. 1999 8(11):2055-62. 10484775 | |||
| Other Myopathy | Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe. 23459219 | ||||
| Other Myopathy | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R533C | c.1597C>T | Other Myopathy | rs193922768 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. Clin Chem. 2003 49(5):761-8. 12709367 | |||
| Other Myopathy | Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe. 23459219 | ||||
| p.Arg533Ser | c.1597C>A | Unknown | SIFT: Polyphen: | ||