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Table 4 Effect of mutations in Cx50 (GJA8) on the functional state of HCs and GJCs evaluated in a heterologous expression system, the domain that is affected and its phenotype

From: Connexinopathies: a structural and functional glimpse

Domain Mutation GJCs Function HCs Function Cataract Phenotype
NT R23T [242] (−) n.d. Bilateral nuclear
TM1/ECL1 V44A [243] n.d (−) Suture-sparing nuclear
V44E [110] (−) n.d. Whole lens
W45S [106], [244] (−) (−) Jellyfish-like appearance, Micro cornea
ECL1 G46V [104], [106] (+) (+) Total
D47N [110], [117] (−) n.d. Nuclear Pulverulent
E48K [116], [245] (−) Normal Zonular Nuclear Pulverulent
S50P [114], [118] (−) (−) Altered fiber cell formation, dense cataract and posterior capsule rupture
TM2 V79L [110] (−) n.d. “Full moon” with Y-suture Opacities
P88S [34], [246] (−) n.d. Zonular Pulverulent
P88Q [247] (−) n.d. Lamellar Pulverulent
CT S276F [248], [249] (−) (−) Nuclear Pulverulent
Cx50fs [250] (−) n.d. Triangular
  1. (−) = Loss of function. (+) = Gain of function. n.d. = not determined