No paralogue variants have been mapped to residue 2666 for RYR2.
RYR2 | EELHLSRKLFWGIFDALSQKKYEQELFKLA>L<PCLSAVAGALPPDYMESNYVSMMEKQSSMD | 2696 |
RYR1 | EELHLTRKLFWGIFDSLAHKKYDPELYRMA>M<PCLCAIAGALPPDYVDASYSSKAEKKATVD | 2730 |
RYR3 | EELHLTEKLFWGIFDSLSHKKYDPDLFRMA>L<PCLSAIAGALPPDYLDTRITATLEKQISVD | 2593 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2666V | c.7996C>G | Putative Benign | rs370333448 | SIFT: tolerated Polyphen: benign | |
p.L2666Q | c.7997T>A | Putative Benign | SIFT: Polyphen: |