No paralogue variants have been mapped to residue 2693 for RYR1.
RYR1 | NFGVTSEEELHLTRKLFWGIFDSLAHKKYD>P<ELYRMAMPCLCAIAGALPPDYVDASYSSKA | 2723 |
RYR2 | NFGAASEEELHLSRKLFWGIFDALSQKKYE>Q<ELFKLALPCLSAVAGALPPDYMESNYVSMM | 2689 |
RYR3 | SYGLAVEEELHLTEKLFWGIFDSLSHKKYD>P<DLFRMALPCLSAIAGALPPDYLDTRITATL | 2586 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2693L | c.8078C>T | Putative Benign | SIFT: deleterious Polyphen: benign |