No paralogue variants have been mapped to residue 2698 for RYR1.
RYR1 | SEEELHLTRKLFWGIFDSLAHKKYDPELYR>M<AMPCLCAIAGALPPDYVDASYSSKAEKKAT | 2728 |
RYR2 | SEEELHLSRKLFWGIFDALSQKKYEQELFK>L<ALPCLSAVAGALPPDYMESNYVSMMEKQSS | 2694 |
RYR3 | VEEELHLTEKLFWGIFDSLSHKKYDPDLFR>M<ALPCLSAIAGALPPDYLDTRITATLEKQIS | 2591 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2698R | c.8093T>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. Anesth Analg. 2009 109(4):1273-7. 19762757 | |||
p.M2698T | c.8093T>C | Benign | rs185021599 | SIFT: Polyphen: benign | |
p.M2698V | c.8092A>G | Putative Benign | SIFT: Polyphen: |