No paralogue variants have been mapped to residue 819 for RYR1.
RYR1 | RFLLGGRHGEFKFLPPPGYAPCHEAVLPRE>R<LHLEPIKEYRREGPRGPHLVGPSRCLSHTD | 849 |
RYR2 | RFLLGGRHGEFKFLPPPGYAPCYEAVLPKE>K<LKVEHSREYKQERTYTRDLLGPTVSLTQAA | 861 |
RYR3 | RFLMGGRHGEFKFLPPSGYAPCYEALLPKE>K<MRLEPVKEYKRDADGIRDLLGTTQFLSQAS | 848 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R819Q | c.2456G>A | Putative Benign | SIFT: Polyphen: |