No paralogue variants have been mapped to residue 3296 for RYR1.
RYR1 | MPHVIEITLPMLCSYLPRWWERGPEAPPSA>L<PAGAPPPCTAVTSDHLNSLLGNILRIIVNN | 3326 |
RYR2 | MPHVMEVILPMLCSYMSRWWEHGPENNPE->-<--RAEMCCTALNSEHMNTLLGNILKIIYNN | 3287 |
RYR3 | MPHVIEVILPMLCNYLSYWWERGPENLPP->-<--STGPCCTKVTSEHLSLILGNILKIINNN | 3183 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3296V | c.9886C>G | Putative Benign | rs368433841 | SIFT: tolerated Polyphen: benign |