No paralogue variants have been mapped to residue 317 for RYR1.
RYR1 | GQYLALTEDQGLVVVDASKAHTKATSFCFR>I<---SKEKLDVAPKRDVEGMGPPEIKYGESL | 344 |
RYR2 | GKYLSLMEDKNLLLMDKEKADVKSTAFTFR>S<---SKEKLDVGVRKEVDGMGTSEIKYGDSV | 360 |
RYR3 | GHYLALTEDQGLILQDRAKSDTKSTAFSFR>A<SKELKEKLDSSHKRDIEGMGVPEIKYGDSV | 352 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I317V | c.949A>G | Putative Benign | SIFT: Polyphen: |