No paralogue variants have been mapped to residue 3478 for RYR1.
RYR1 | SHNFKREEQNFVVQNEINNMSFLTADNKSK>M<AKAGDIQSGGSDQERTKKKRRGDRYSVQTS | 3508 |
RYR2 | SHNFKREEQNFVVQNEINNMSFLITDTKSK>M<SKAA-----VSDQERKKMKRKGDRYSMQTS | 3464 |
RYR3 | SHNFKREEQNFVIQNEINNLAFLTGDSKSK>M<SKAMQVKSGGQDQERKKTKRRGDLYSIQTS | 3365 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M3478I | c.10434G>A | Putative Benign | SIFT: Polyphen: |