Figure 3 of Lin, Mol Vis 2012; 18:2190-2194.


Figure 3. The DNA sequence of a part of the PAX6 gene in the affected patients and unaffected individuals is shown. Case 1 represents a heterozygous AG deletion at nucleotide 375–376 (c.375_376delAG) in exon 7 of the PAX6 gene. This frameshift mutation was predicted to cause a PTC seven codons downstream from the first new inappropriate codon 125 created by the nucleotide mutation (p.Arg125SerfsX7). The underlining (“Wild” graph) shows the AG in the normal controls, which the affected patients lacked (the arrow pointing to in the “Mutant and Heterozygous” graph). Case 2 represents one novel mutation in exon 10, c.868_871dupAGTT (p.Phe291X); a 4-nucleotide (AGTT) duplication generated a frameshift mutation in exon 10, and this frameshift mutation was predicted to cause a PTC in the codon 291 created by the nucleotide duplication.