Fig. 3.

Depiction of cataract mutants in human Cx46 and Cx50. Diagrams show the membrane topology of Cx46 and Cx50 and the localization of Cx46 and Cx50 mutants found in patients with non-syndromic and syndromic cataracts. The diagrams do not include mutations predisposing to age-related cataracts. Missense mutations are represented by a fusiform shape; frame-shift mutations (fs) are depicted by double rhombi; and early termination mutations by rectangles. Cx46 and Cx50 mutants with autosomal dominant inheritance are represented in light blue-purple. Mutants with recessive inheritance are shown in light golden yellow and mutants with an unassigned or sporadic inheritance pattern are shown in green. For different missense mutations at the same amino acid residue, the color coding depicts a known inheritance pattern (even if it is unassigned for the other missense mutations at that site). The Cx50I247M mutant has not been depicted, because it may be a polymorphism. These diagrams are based on the information available in Cat-Map ([2]; http://cat-map.wustl.edu/)