No paralogue variants have been mapped to residue 2358 for RYR1.
RYR1 | GERYLDFLRFAVFVNGESVEENANVVVRLL>I<RKPECFGPALRGEGGSGLLAAIEEAIRISE | 2388 |
RYR2 | GERYLDFLRFAVFCNGESVEENANVVVRLL>I<RRPECFGPALRGEGGNGLLAAMEEAIKIAE | 2355 |
RYR3 | GERYLSFLRFAVFVNSESVEENASVVVKLL>I<RRPECFGPALRGEGGNGLLAAMQGAIKISE | 2252 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2358L | c.7072A>C | Putative Benign | SIFT: Polyphen: |