No paralogue variants have been mapped to residue 3479 for RYR1.
RYR1 | HNFKREEQNFVVQNEINNMSFLTADNKSKM>A<KAGDIQSGGSDQERTKKKRRGDRYSVQTSL | 3509 |
RYR2 | HNFKREEQNFVVQNEINNMSFLITDTKSKM>S<KAA-----VSDQERKKMKRKGDRYSMQTSL | 3465 |
RYR3 | HNFKREEQNFVIQNEINNLAFLTGDSKSKM>S<KAMQVKSGGQDQERKKTKRRGDLYSIQTSL | 3366 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A3479V | c.10436C>T | Putative Benign | rs370080658 | SIFT: tolerated Polyphen: benign |