Cell line | Phenotype | Genotype | GAA relative activity | |
---|---|---|---|---|
 |  | DNA mutation | Protein mutation |  |
1 | severe | c.1101G>A/c.1927G>A | p.W367X/p.G643R | 0.3% |
2 | intermediate | c.1655T>C/c.1655T>C | p.L552P/p.L552P | 1.2% |
3 | intermediate | c.1655T>C/c.-35C>A | p.L552P/abn. splicing | 1.6% |
4 | juvenile | c.1645G>C/c.692+1G>C | p.G549R/abn. splicing | 3.2% |
5 | juvenile | c.-45T>G/unknown | abn. splicing/unknown | 5.2% |