No paralogue variants have been mapped to residue 3547 for RYR1.
RYR1 | MLPIGLNMCAPTDQDLITLAKTRYALKDTD>E<EVREFLHNNLHLQGKVEGSPSLRWQMALYR | 3577 |
RYR2 | LLPIGLNICAPGDQELIALAKNRFSLKDTE>D<EVRDIIRSNIHLQGKLE-DPAIRWQMALYK | 3532 |
RYR3 | MLPIGLNMCTPGDQELISLAKSRYSHRDTD>E<EVREHLRNNLHLQEKSD-DPAVKWQLNLYK | 3433 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3547D | c.10641G>C | Putative Benign | SIFT: Polyphen: |