Figure 4. Boxes indicate regions with a helical secondary structure denoted as NTH, TM1, TM2, TM3, TM4, and a short helix in E1. The membrane region is depicted in light blue. Red letters: Previous connexin 50 gene mutations with congenital cataract in humans: R23T, I31T, V44E, W45S, G46V, D47N, D47Y, E48K, V64G, V79L, P88Q, P88S, P189L, R198W, R198Q, I247M, S258F, and S276F. Yellow letters: Previous connexin 50 gene mutations in the mouse: L7Q, G22R (Lop10 mouse), D47A (nuclear opacity 2, No 2 mouse), and S50P (L1 mouse). Red letter in yellow circle: the new mutation D47H in this family.