Table 2. Sequence variants identified in the PAX6 gene in probands.
| Proband ID | Location | Domain | Nucleotide change | Amino acid change | References |
|---|---|---|---|---|---|
| 1a | Exon 6 | PD | c.238_241dupACTC | p.(Pro81HisfsTer12) | Novel |
| 2 | Exon 5 | PD | c.114_121del8 | p.(Pro39HisfsTer14) | [1] |
| 4 | Exon 10 | PST | c.820C>T | p.(Gln274Ter) | Novel |
| 6 | Exon 5 | PD | c.86T>C | p.(Ile29Thr) | Novel |
| 8 | Exon 8 | LNK | c.538C>T | p.(Gln180Ter) | [2] |
| 9 | Exon 6 | PD | c.325G>T | p.(Gly109Ter) | [3] |
| 10 | Exon 10 | HD | c.781C>T | p.(Arg261Ter) | [1,3-5] |
| 11 | Exon 8 | LNK | c.607C>T | p.(Arg203Ter) | [2,4-7] |
| 12a | Exon 13 | PST | c.1268A>T | p.(Ter423LeuextTer15) | [1,3,5,8] |
| 15 | Exon 1 | - | c.3G>T | p.(Met1?) | Novel |
| 17 | Intron 12 | PST | c.1183+1G>A | - | [5] |
HD, homeodomain; LNK, linker region; PD, paired domain; PST, proline-threonine-serine-rich domain