Table 2 Molecular analysis of PAX6 mutations with their predicted products.
From: PAX6 gene variations associated with aniridia in south India
Proband | Exon/ Intron | Systematic Name | Codon | Domain | Type of Mutation | Predicted amino acid change | References |
|---|---|---|---|---|---|---|---|
23–1 | 9 | c.1080C>T | 240 | HD | Nonsense | Arginine to stop Codon | [14] |
14–1 | 10 | c.1180insA | 273 | PST | Frame shift Due to insertion | Premature termination | [14] |
28–1 | 6 | c.715ins5 | 118 | PD | Frame shift due to insertion with duplication | Addition of two amino acids | Present Report |
27–1 | 10 | c.1201delA | 280 | PST | Deletion | Termination codon at Exon 12 | Present Report |
10–1 | 8 | c.901delA | 180 | LNK | Deletion | Premature termination at exon 8 | Present Report |
21–1 | 5 | c.482C>A | 40 | PD | Nonsense | Cysteine to stop codon | Present Report |
16–1 | 7 | c.830G>A | 156 | LNK | Nonsense | Tryptophan to stop codon | Present Report |
18–1 | intron 9 | IVS 9-12C>T | -- | HD | Transition | Neutral polymorphism | Present Report |