Table 2. List of PEX1 missense mutations in patients with Zellweger spectrum disorder.
| DNA level | Protein level | Total | Mild | Intermediate | Severe |
|---|---|---|---|---|---|
| c.130-2A>G | p.54_91del | 1 | 1 | ||
| c.274G>C | p.V92L | 3 | 3 | ||
| c.475G>C | p.A159P | 1 | 1 | ||
| c.1240_1359del | p.414_453del | 4 | 4 | ||
| c.1742G>C | p.R581P | 1 | 1 | ||
| c.1777G>A | p.G593R | 5 | 5 | ||
| c.1865_1866insCAGTGTGGA | p.A622_H623insSVD | 2 | 2 | ||
| c.2008C>A | p.L670M | 1 | 1 | ||
| 9bp insertion in exon12 | inframe ins 633_690 | 1 | 1 | ||
| c.1991T>C | p.L664P | 1 | 1 | ||
| c.2083_2085delATG | p.M695del | 2 | 2 | ||
| c.2114T>G | p.L705W | 2 | 2 | ||
| c.2387T>C | p.L796P | 2 | 1 | 1 | |
| c.2528G>A | p.G843D | 162 | 40 | 101 | 21 |
| c.2636T>C | p.L879S | 2 | 1 | 1 | |
| c.2845C>T | p.R949W | 1 | 1 | ||
| c.2966T>C | p.I989T | 1 | 1 | ||
| c.2993G>A | p.R998Q | 1 | 1 | ||
| c.3037C>G | p.R1013G | 2 | 1 | 1 | |
| c.3037C>T | p.R1013C | 5 | 4 | 1 | |
| c.3038G>A | p.R1013H | 3 | 1 | 2 | |
| c.3077T>C | p.L1026P | 2 | 1 | 1 | |
| c.3124A>C | p.F1042L | 1 | 1 | ||
| c.3140T>C | p.L1047P | 1 | 1 | ||
| NA | p.L1256_A1283del | 1 | 1 | ||
| c.3850T>C | Stop lost | 1 | 1 | ||
| Total | 209 | 50 | 121 | 38 |
DNA, deoxyribonucleic acid; NA, not available.