No paralogue variants have been mapped to residue 2603 for RYR2.
RYR2 | LLSICGQLRPSMMQHLLRRLVFDVPLLNEH>A<KMPLKLLTNHYERCWKYYCLPGGWGNFGAA | 2633 |
RYR1 | LMSLCRYIRPSMLQHLLRRLVFDVPILNEF>A<KMPLKLLTNHYERCWKYYCLPTGWANFGVT | 2667 |
RYR3 | LLAICNHLRPSMLQQLLRRLVFDVPQLNEY>C<KMPLKLLTNHYEQCWKYYCLPSGWGSYGLA | 2530 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2603T | c.7807G>A | Putative Benign | rs59331340 | SIFT: tolerated Polyphen: possibly damaging | |
p.A2603G | c.7808C>G | Putative Benign | SIFT: Polyphen: | ||
p.A2603V | c.7808C>T | Putative Benign | SIFT: Polyphen: |