No paralogue variants have been mapped to residue 2904 for RYR1.
RYR1 | MAEQLAENYHNTWGRKKKQELEAKGGGTHP>L<LVPYDTLTAKEKARDREKAQELLKFLQMNG | 2934 |
RYR2 | MAEMMAENYHNIWAKKKKMELESKGGGNHP>L<LVPYDTLTAKEKAKDREKAQDILKFLQING | 2900 |
RYR3 | MVEVVAENYHNIWAKKKKLELESKGGGSHP>L<LVPYDTLTAKEKFKDREKAQDLFKFLQVNG | 2795 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2904V | c.8710C>G | Putative Benign | SIFT: Polyphen: |