Table 2 of Souzeau, Mol Vis 2018; 24:261-273.


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]