Summary of reported mutations of the GDAP1 gene
| Exon/intron | Mutation | Effect | References |
|---|---|---|---|
| Exon 1 | c.92G>A | W31X | 4 |
| Exon 3 | c.349_350insT | T117fs | 7 |
| Exon 3 | c.359G>A | R120Q | 8 |
| Exon 3 | c.482G>A | R161H | 4 |
| Intron 3 | IVS3-2A>G | r.485_579del | This study |
| Exon 4 | c.487C>T | Q163X | 5, 8 |
| Intron 4 | IVS4+1G>A | ? | 7 |
| Exon 5 | c.581C>G | S194X | 4, 5, 6 |
| Exon 5 | c.668T>A | L223X | This study |
| Exon 6 | c.844C>T | R282C | 6, 7 |
| Exon 6 | c.863insA | T288fsX290 | 5 |
| Exon 6 | c.786delG | G262fs | 6 |