No paralogue variants have been mapped to residue 3948 for RYR1.
RYR1 | TVDYLLRLQESISDFYWYYSGKDVIEEQGK>R<NFSKAMSVAKQVFNSLTEYIQGPCTGNQQS | 3978 |
RYR2 | TVDYLLRVQESISDFYWYYSGKDVIDEQGQ>R<NFSKAIQVAKQVFNTLTEYIQGPCTGNQQS | 3934 |
RYR3 | TVDYLLRLQESISDFYWYYSGKDIIDESGQ>H<NFSKALAVTKQIFNSLTEYIQGPCIGNQQS | 3830 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3948G | c.11842A>G | Putative Benign | SIFT: Polyphen: |