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Table 5 CpG transitions in the PAX6 open reading frame.

From: PAX6 mutations: genotype-phenotype correlations

Nucleotide change

Codon change

Location

Mutation type

Reports

414G>A

ACG>ACA (G18R)

PD exon 5

Missense

1

494C>T

CGA>TGA (R44X)

PD exon 5

Nonsense

1

493G>A

CGA>CAA (R44Q)

PD exon 5

Missense

1

669C>T

CGA>TGA (R103X)

PD exon 6

Nonsense

3

744C>T

CGC>TGC (R128C)

PD exon 7

Missense

2

782C>T

GAC>GAT (D140D)

LNK exon 7

Neutral

1

969C>T

CGA>TGA (R203X)

LNK exon 8

Nonsense

15

984C>T

CGG>TGG (R208W)

LNK exon 8

Missense

1

985G>A

CGG>CAG (R208Q)

LNK exon 8

Missense

1

1080C>T

CGA>TGA (R240X)

HD exon 9

Nonsense

21

1143C>T

CGA>TGA (R261X)

HD exon 10

Nonsense

8

1311C>T

CGA>TGA (R317X)

PST exon 11

Nonsense

16

  1. PD, paired domain; LNK, linker region; HD, homeodomain; PST, proline/serine/threonine-rich region. 'Reports' indicates how many times the mutation has been reported in the PAX6 Allelic Variant Database.