No paralogue variants have been mapped to residue 3582 for RYR1.
RYR1 | FLHNNLHLQGKVEGSPSLRWQMALYRGVPG>R<EEDADDPEKIVRRV-------------QEV | 3599 |
RYR2 | IIRSNIHLQGKLE-DPAIRWQMALYKDLPN>R<TDDTSDPEKTVERVLDIANVLFHLEQKSKR | 3567 |
RYR3 | HLRNNLHLQEKSD-DPAVKWQLNLYKDVLK>-<SEEPFNPEKTVERV-------------QRI | 3454 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3582H | c.10745G>A | Putative Benign | rs142491855 | SIFT: Polyphen: benign | |
p.R3582C | c.10744C>T | Putative Benign | SIFT: Polyphen: | ||
p.R3582L | c.10745G>T | Putative Benign | SIFT: Polyphen: |