No paralogue variants have been mapped to residue 3648 for RYR1.
RYR1 | AVWHKLLSKQRRRAVVACFRMTPLYNLPTH>R<ACNMFLESYKAAWILTEDHSFEDRMIDDLS | 3678 |
RYR2 | AVWHKLLSKQRKRAVVACFRMAPLYNLPRH>R<AVNLFLQGYEKSWIETEEHYFEDKLIEDLA | 3645 |
RYR3 | AVWHKLLSKQRKRAVVACFRMAPLYNLPRH>R<SINLFLHGYQRFWIETEEYSFEEKLVQDLA | 3533 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3648Q | c.10943G>A | Putative Benign | SIFT: Polyphen: |