Skip to main content
Fig. 8 | BMC Ophthalmology

Fig. 8

From: A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis

Fig. 8

Analysis of the evolutionary conservation and the protein structural stability of PAX6. (A) The PAX6 protein alignment among 8 different species demonstrates the evolutionary conservation of residue V53. (B-C) 3D protein structure of human PAX6 (predicted by AlphaFold) shows the conformational changes induced with and without the p.(Val53Met) substitution

Back to article page

BMC Ophthalmology

ISSN: 1471-2415

Contact us