No paralogue variants have been mapped to residue 3238 for RYR1.
RYR1 | PQLNEYNACSVYTTKSPRERAILGLPNSVE>E<MCPDIPVLERLMADIGGLAESGARYTEMPH | 3268 |
RYR2 | THLDKHNIYSIYNTKSSRERAALSLPTNVE>D<VCPNIPSLEKLMEEIVELAESGIRYTQMPH | 3233 |
RYR3 | PTLNRYNPLSVFNTKTPRERSILGMPDTVE>D<MCPDIPQLEGLMKEINDLAESGARYTEMPH | 3129 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3238G | c.9713A>G | Other Myopathy | rs200950673 | SIFT: Polyphen: benign | |
Reports | Other Myopathy | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375 | |||
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 | ||||
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 |