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.