Figure 1 of Liška, Mol Vis 2008; 14:823-828.


Figure 1. Connexin 50 mutations known to date. The point mutations in Cx50 causing the dominant form of microphthalmia and cataract in the rat, mouse, and human are shown: G22R (Lop10 mouse) [15], R23T (human) [16], D47A (No2 mouse) [17], E48K (human) [18], S50P (L1 mouse) [19], V64A (Aey5 mouse) [20], V64G (human) [21], P88S (human) [22], P88Q (human) [23], I247M (human) [24], and R340W (Uca rat) [25]. L7Q mutation affects the NH2-terminal cytosolic portion of Cx50 (arrow).