Figure 6. Schematic diagram of the connexin 46 polypeptide and locations of identified mutations

The connexin 46 polypeptide (435 amino acids) has nine structural domains including a cytoplasmic amino terminal, four transmembrane domains (M1-M4), two extracellular loops (E1, E2), a cytoplasmic loop, and a cytoplasmic carboxy terminal (figure modified from Bennett et al [33]). The location of R33L mutation observed in the present family (as highlighted in red) and other already known mutations associated with congenital cataract are indicated.