No paralogue variants have been mapped to residue 2653 for RYR1.
RYR1 | LRRLVFDVPILNEFAKMPLKLLTNHYERCW>K<YYCLPTGWANFGVTSEEELHLTRKLFWGIF | 2683 |
RYR2 | LRRLVFDVPLLNEHAKMPLKLLTNHYERCW>K<YYCLPGGWGNFGAASEEELHLSRKLFWGIF | 2649 |
RYR3 | LRRLVFDVPQLNEYCKMPLKLLTNHYEQCW>K<YYCLPSGWGSYGLAVEEELHLTEKLFWGIF | 2546 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2653R | c.7958A>G | Putative Benign | rs199864636 | SIFT: Polyphen: benign |