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 NH
2-terminal cytosolic portion of
Cx50 (arrow).