Amenable mutations of enrolled and treated patients and the corresponding clinical phenotype
| Amino acid change (number of patients with the mutation) | Literature phenotype | Amino acid change | Literature phenotype |
|---|---|---|---|
| p.M96I | Non-classic | p.G260A | Classic |
| p.L32P (n=3) | Unknown | p.Q279E | Non-classic |
| p.G35R | Non-classic | p.M284T | Classic |
| p.D55V/Q57L | Unknown* | p.M296I | Non-classic |
| p.G85D (n=4) | Unknown* | p.R301P (n=3) | Classic |
| p.A97V | Non-classic | p.R301Q | Both |
| p.R112G | Unknown* | p.G328A | Classic |
| p.R112H | Non-classic | p.Q312R | Non-classic |
| p.A143T (n=3) | Non-classic | p.D322E (n=4) | Classic |
| p.A156T (n=6) | Classic | p.R356Q | Non-classic |
| p.P205T | Classic | p.R363H | Both |
| p.N215S (n=10) | Non-classic | p.L403S | Classic |
| p.Y216C | Classic | p.P409T | Unknown* |
| p.I253S | Unknown* |
Number of patients with each mutation is 1 unless indicated otherwise.
To date, 269 GLA mutations have been categorised as amenable to migalastat based on the Good Laboratory Practice human embryonic kidney assay. The supportive references for the literature phenotypes are provided in the online supplementary table S3.
*Ten of the 11 patients, including at least one patient for each of the six unique mutations (3 of 4 for p.G85D), had baseline disease in ≥2 organ systems.