No paralogue variants have been mapped to residue 3342 for RYR1.
RYR1 | LNSLLGNILRIIVNNLGIDEASWMKRLAVF>A<QPIVSRARPELLQSHFIPTIGRLRKRAGKV | 3372 |
RYR2 | MNTLLGNILKIIYNNLGIDEGAWMKRLAVF>S<QPIINKVKPQLLKTHFLPLMEKLKKKAATV | 3333 |
RYR3 | LSLILGNILKIINNNLGIDEASWMKRIAVY>A<QPIISKARPDLLRSHFIPTLEKLKKKAVKT | 3229 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A3342V | c.10025C>T | Putative Benign | rs201501834 | SIFT: Polyphen: benign | |
p.A3342T | c.10024G>A | Putative Benign | SIFT: Polyphen: |