No paralogue variants have been mapped to residue 843 for RYR1.
RYR1 | AVLPRERLHLEPIKEYRREGPRGPHLVGPS>R<CLSHTDFVPCPVDTVQIVLPPHLERIREKL | 873 |
RYR2 | AVLPKEKLKVEHSREYKQERTYTRDLLGPT>V<SLTQAAFTPIPVDTSQIVLPPHLERIREKL | 885 |
RYR3 | ALLPKEKMRLEPVKEYKRDADGIRDLLGTT>Q<FLSQASFIPCPVDTSQVILPPHLEKIRDRL | 872 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R843L | c.2528G>T | Putative Benign | rs144911352 | SIFT: Polyphen: benign | |
p.R843C | c.2527C>T | Putative Benign | SIFT: Polyphen: |