Table 1 Categories of mutation in the PAX6 Allelic Variant Database

Nonsense

Single nucleotide substitution creates a stop codon in the open reading frame.

Splicing

Nucleotide substitution, deletion or insertion in consensus splice site.

Frame-shifting insertion or deletion

Deletion or insertion of nucleotides in the open reading frame – total number not divisible by three.

In-frame insertion or deletion

Deletion or insertion of nucleotides in the open reading frame – total number divisible by three.

Missense

Single nucleotide substitution changes one amino acid codon to another in the open reading frame.

Run-on

Nucleotide substitution, insertion or deletion changes the termination codon to an amino acid codon. Translation is predicted to continue into the 3'UTR.