No paralogue variants have been mapped to residue 4516 for RYR1.
RYR1 | ELPPEPEPEPEPELEPEKADAENGEKEEVP>E<PTPEPPKKQ---------APPSPPPKKEEA | 4537 |
RYR2 | -KEEEKEEKEETKSEPEKAEGEDGEKEEKA>K<EDKGKQKLR--------QLHTHRYGEPEVP | 4476 |
RYR3 | -AEMKAANEAEGKVESEKADMEDGEKEDKD>K<EEEQAEYLWTEVTKKKKRRCGQKVEKPEAF | 4387 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4516G | c.13547A>G | Putative Benign | rs149984626 | SIFT: Polyphen: | |
p.E4516K | c.13546G>A | Putative Benign | SIFT: Polyphen: |