Figure 1. SOX2 gene structure and mutations in anophthalmia/microphthalmia. The 5′- and 3′- untranslated regions are shown as blank boxes,
and the coding region is shown as a filled box. The start (ATG) and the stop (TGA) codons are indicated. Mutations detected
in this study are indicated. The nuclear targeting sequence is underlined. HMG=high mobility group, G=guanosine, T=thymidine,
C=cytidine, A=adenosine, Glu=glutamic acid, Pro=proline, Arg=arginine, X=stop, FS=frameshift.