No paralogue variants have been mapped to residue 817 for RYR1.
RYR1 | KVRFLLGGRHGEFKFLPPPGYAPCHEAVLP>R<ERLHLEPIKEYRREGPRGPHLVGPSRCLSH | 847 |
RYR2 | KVRFLLGGRHGEFKFLPPPGYAPCYEAVLP>K<EKLKVEHSREYKQERTYTRDLLGPTVSLTQ | 859 |
RYR3 | KVRFLMGGRHGEFKFLPPSGYAPCYEALLP>K<EKMRLEPVKEYKRDADGIRDLLGTTQFLSQ | 846 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R817Q | c.2450G>A | Putative Benign | SIFT: Polyphen: |