No paralogue variants have been mapped to residue 3714 for RYR1.
RYR1 | EEEEEEVEEKKPDPLHQLVLHFSRTALTEK>S<KLDEDYLYMAYADIMAKSCHLEEGGENGEA | 3744 |
RYR2 | EPPEEDEGTKRVDPLHQLILLFSRTALTEK>C<KLEEDFLYMAYADIMAKSCHDEED-D--DG | 3707 |
RYR3 | EEEEEEETEKQPDPLHQIILYFSRNALTER>S<KLEDDPLYTSYSSMMAKSCQSGED-E--EE | 3596 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S3714N | c.11141G>A | Putative Benign | SIFT: Polyphen: |