No paralogue variants have been mapped to residue 2496 for RYR1.
RYR1 | LVGIISLPLQIPTLGKDGALVQPKMSASFV>P<DHKASMVLFLDRVYGIENQDFLLHVLDVGF | 2526 |
RYR2 | LVGVISIAFQMPTIAKDGNVVEPDMSAGFC>P<DHKAAMVLFLDRVYGIEVQDFLLHLLEVGF | 2492 |
RYR3 | LVGIISIPLKLPSLNKDGSVSEPDMAANFC>P<DHKAPMVLFLDRVYGIKDQTFLLHLLEVGF | 2389 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2496L | c.7487C>T | Other Myopathy | rs193922817 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
p.Pro2496Arg | c.7487C>G | Unknown | SIFT: Polyphen: |