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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Figure 2

Schematic representation of mutated PITX3 proteins. The top diagram represents the wild-type PITX3 protein. The green box represents the homeodomain of 60 amino acids and the blue box the OAR (named after otp, aristaless and rax) domain of 14 amino acids. The middle and bottom diagram represent the mutant PITX3 proteins p.(Gly220Profs*95) (recurrent) and p.(Ser192Alafs*117) (novel), respectively. The positions of the mutations are indicated with a red line and the resulting aberrant protein segments are highlighted by a red box.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172