No paralogue variants have been mapped to residue 3551 for RYR1.
RYR1 | GLNMCAPTDQDLITLAKTRYALKDTDEEVR>E<FLHNNLHLQGKVEGSPSLRWQMALYRGVPG | 3581 |
RYR2 | GLNICAPGDQELIALAKNRFSLKDTEDEVR>D<IIRSNIHLQGKLE-DPAIRWQMALYKDLPN | 3536 |
RYR3 | GLNMCTPGDQELISLAKSRYSHRDTDEEVR>E<HLRNNLHLQEKSD-DPAVKWQLNLYKDVLK | 3437 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3551K | c.10651G>A | Putative Benign | SIFT: Polyphen: |