No paralogue variants have been mapped to residue 4457 for RYR1.
RYR1 | HEAGPGGADGAVAVTDGGPFRPEGAGGLGD>M<GDTTPAEPPTPEGSP-ILKRKLGVDGVEEE | 4486 |
RYR2 | SD-----IFGLDLKREGGQYKLIPHNPNAG>L<SDLMSN-PVPMPE-V-QEKFQEQ--KA--- | 4424 |
RYR3 | SD-----LFGLHPKKEGS-LKHGPEVGLGD>L<SEIIGKDEPPTLESTVQKKRKA---QA--- | 4327 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4457L | c.13369A>T | Putative Benign | SIFT: tolerated Polyphen: |