PAX6 mutations: genotype-phenotype correlations

BMC Genomic Data

Table 6 Outcome of potential PTC-creating mutation in exons 12 and 13.

Mutation	Location	Consequence of mutation	Type	NMD predicted
1399delC	Exon 12	PTC at TGA starting at base 1453	FSD	Yes
1410delC	Exon 12	PTC at TGA starting at base 1453	FSD	Yes
1420C>G (S353X)	Exon 12	Immediate PTC	N	Yes
1424C>G (Y354X)	Exon 12	Immediate PTC	N	Yes
1426ins5	Exon 12	PTC at TGA starting at base 1469	FSI	Yes
1452delG	Exon 12	PTC at TGA starting at base 1453	FSD	Yes
1469T>G (Y369X)	Exon 12	Immediate PTC	N	Yes
1513del4	Exon 12	Run-on into 3'UTR	FSD	No
1520delGGinsT	Exon 12	Run-on into 3'UTR	FSD	No
1545G>C	Exon 12	Run-on into 3'UTR	S	No
IVS12+1del3	Intron 12	Run-on into 3'UTR	S	No
IVS12+4A>G	Intron 12	Run-on into 3'UTR	S	No
IVS12+5G>A	Intron 12	Run-on into 3'UTR	S	No
1562delT	Exon 13	Run-on into 3'UTR	FSD	No
1601delT	Exon 13	Run-on into 3'UTR	FSD	No
1615del10	Exon 13	Run-on into 3'UTR	FSD	No

This table shows the outcome of every known PAX6 mutation from the start of exon 12 onwards that could potentially introduce a premature termination codon. Mutations up to and including nucleotide 1495 are within the region in which nonsense-mediated decay is predicted to occur, while mutations from nucleotide 1496 onwards are predicted to escape nonsense-mediated decay. IVS, intervening sequence (intron); FSD, frame-shifting deletion; FSI, frame shifting insertion; N, nonsense mutation; S, splice mutation. PTC, premature termination codon; 3' UTR, 3' untranslated region.

ISSN: 2730-6844