Figure 2.

Schematic drawing of the SOX2 protein with mutations indicated. Mutations resulting in A/M phenotype (unilateral or bilateral) are shown on the top while mutations resulting in non-microphthalmia phenotypes (bilateral) are indicated below; missense mutations are indicated with asterisks. Each specific mutation is marked with a single arrow, unless the mutation resulted in both A/M and non-A/M ocular phenotypes, in which case the mutation is marked with an arrow above and below. Recurrent mutations are indicated with longer arrows with the number of families listed above. The dark gray box represents the homeodomain and the light gray box a partner-factor interaction domain. In the image, NOR indicates Normal; PU indicates Pupillary abnormality; MC indicates Microcornea; CA indicates Cataract; COL indicates Coloboma; CR indicates Chorioretinal dystrophy; ET indicates Esotropia; MY indicates High myopia; IH indicates Iris hypoplasia; ONH indicates Optic nerve hypoplasia.