Figure 3 of
Guleria, Mol Vis 2007;
Figure 3. Schematic diagram of the connexin 46 polypeptide and locations of identified mutations
Connexin 46 polypeptide (435 amino acids) has nine structural domains including a cytoplasmic NH2-terminus, four transmembrane domains (M1-M4), two extracellular loops (E1-E2), a cytoplasmic loop, and a cytoplasmic COOH-terminus (modified figure from Bennett et al. ). The relative location of the T87M mutation (indicated in red) and other reported mutations associated with congenital cataracts in humans are marked.