No paralogue variants have been mapped to residue 3985 for RYR1.
RYR1 | SVAKQVFNSLTEYIQGPCTGNQQSLAHSRL>W<DAVVGFLHVFAHMMMKLAQDSSQIELLKEL | 4015 |
RYR2 | QVAKQVFNTLTEYIQGPCTGNQQSLAHSRL>W<DAVVGFLHVFAHMQMKLSQDSSQIELLKEL | 3971 |
RYR3 | AVTKQIFNSLTEYIQGPCIGNQQSLAHSRL>W<DAVVGFLHVFANMQMKLSQDSSQIELLKEL | 3867 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W3985R | c.11953T>C | Other Myopathy | rs118204422 | SIFT: Polyphen: | |
Reports | Other Myopathy | Novel ryanodine receptor mutation that may cause malignant hyperthermia. Anesthesiology. 2008 109(3):457-64. 18719443 | |||
Other Myopathy | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838 |