No paralogue variants have been mapped to residue 3986 for RYR1.
RYR1 | VAKQVFNSLTEYIQGPCTGNQQSLAHSRLW>D<AVVGFLHVFAHMMMKLAQDSSQIELLKELL | 4016 |
RYR2 | VAKQVFNTLTEYIQGPCTGNQQSLAHSRLW>D<AVVGFLHVFAHMQMKLSQDSSQIELLKELM | 3972 |
RYR3 | VTKQIFNSLTEYIQGPCIGNQQSLAHSRLW>D<AVVGFLHVFANMQMKLSQDSSQIELLKELL | 3868 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3986E | c.11958C>G | Other Myopathy | rs193922842 | 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 | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||
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 | ||||
Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
Other Myopathy | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 |