No paralogue variants have been mapped to residue 2453 for RYR1.
RYR1 | MSFYAALIDLLGRCAPEMHLIQAGKGEALR>I<RAILRSLVPLEDLVGIISLPLQIPTLGKDG | 2483 |
RYR2 | MTFYSALIDLLGRCAPEMHLIHAGKGEAIR>I<RSILRSLIPLGDLVGVISIAFQMPTIAKDG | 2449 |
RYR3 | MSFYSALIDLLGRCAPEMHLIQTGKGEAIR>I<RSILRSLVPTEDLVGIISIPLKLPSLNKDG | 2346 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2453T | c.7358T>C | Other Myopathy | rs118192123 | SIFT: Polyphen: | |
Reports | Other Myopathy | [Current aspects of the diagnosis of malignant hyperthermia]. Anaesthesist. 2002 51(11):904-13. 12434264 | |||
Other Myopathy | A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet A. 2004 124A(3):248-54. 14708096 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
p.I2453V | c.7357A>G | Putative Benign | SIFT: Polyphen: |