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. 2019 Dec 17;10(12):1050. doi: 10.3390/genes10121050

Figure 5.

Figure 5

Spectrum of coding PAX6 mutations causing non-aniridia phenotypes. A representation of canonical PAX6 structure is shown with respective domains and amino acid distribution. Mutations and respective phenotypes were collected from the PAX6 Mutation Database and the Human Genome Mutation Database (HGMD). The majority of mutations are included in the paired domain (NTS and CTS) and constitute missense mutations (squares). Mutations in alternative exon 5a are shown in blue. a Isolated foveal hypoplasia and nystagmus without iris abnormalities; variants shown in grey show cases presenting full iris but with possible mild structural defects [86]; b Optic nerve malformations include optic nerve coloboma, aplasia, and morning glory disc; NTS: N-terminal subdomain; CTS: C-terminal subdomain; LNK: linker region; HD: homeodomain; PSTD: proline-serine-threonine domain; aa: amino acids; ASD: anterior segment dysgenesis.