Table 2.
The GAA gene mutations of five LOPD patients
| Number | Allele 1 | Location 1 | Transcript 1 | Effect 1 | Allele 2 | Location 2 | Transcript 2 | Effect 2 |
|---|---|---|---|---|---|---|---|---|
| 1 | c.1201C>A | Exon 8 | p.Q401K | Unknown | c.1057C>T | Exon 6 | p.Q353X | Unknown |
| 2 | c.2238G>C | Exon 16 | p.W746C | Potentially mild | c.2235dupG | Exon 16 | p.L745fs | Unknown |
| 3 | c.1309C>T | Exon 8 | p.R437C | Less severe | c.2051C>A | Exon 15 | p.P684Q | Unknown |
| 4 | c.2237G>A | Exon 16 | p.W746X | Very severe | c.796C>A | Exon 4 | p.P266T | Unknown |
| 5 | c.1799G>C | Exon 13 | p.R600P | Unknown | c.1780C>T | Exon 13 | p.R594C | Unknown |
GAA: Acid alpha-glucosidase; LOPD: Late-onset Pompe disease.