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Table 2 Effect of mutations in Cx32 (GJB1) 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 CMTX Phenotype
NT W3A, W3S, W3Y, G12S, W13L, V13L, R15W, R22G, R22X [127], [197]–[203] (−) n.d. Mild to Severe, Severe, Mild to Moderate, Not described
TM1 S26L, M34K, A39V, A40V [70], [71], [204], [205] (−) n.d. Mild, Not Described
M34T, V35M, V38M [70], [205], [206] (−) n.d. Mild to Moderate, Severe
ECL1 G45E [207] n.d. (+) Not Described
ECL1 C53S, C60F, Y65C, R75P [203], [205], [208]–[210] (−) n.d. Not Described
T55I, R75Q, R75W [72], [204], [205], [209], [210], (−) n.d. Mild
TM2 S85C [127], [211] n.d. (+) Severe, Mild
T86A, T86S, T86N, T87A [70], [212] (−) (−) Not Described, Mild
H94Y, H94Q [127], [206] (−) n.d. Mild to Moderate
M93V, V95M [203], [204], [206] (−) n.d. Not Described, Mild to Moderate
ICL E102G, Null111-116 [71], [198], [202], [213] (−) n.d. Mild, Mild to Moderate
R107W, R129H [203], [214] (−) n.d. Mild to Moderate, Not described
TM3 V139M, V140E, R142W [127], [197], [209], [215]–[219] (−) n.d. Mild to Moderate, Mild to Severe, Moderate to Severe
ECL2 L143P, L156R [203], [218] (−) n.d. Mild to Moderate
R164Q, V181A, E186K [197], [204], [206], [213], [214], [216], [219] (−) n.d. Moderate to Severe
R164W, P172R, S182T, R183H [72], [198], [203], [204], [206], [208] (−) n.d. Mild to Moderate, Not Described
TM4 G199R, R203C, N205I [203], [205], [206], [214] (−) n.d. Moderate to Severe, Not Described
E208K, R208K [197], [202], [203], [216], [220], [221] (−) (−) Moderate to Severe
Y211X [203], [222] (−) n.d. Severe
CT R215W [206], [209], [221] (−) (−) Mild to Moderate
C217X [198], [220] n.d. (−) Severe
R220X [71], [197], [198], [206], [220] (−) n.d. Moderate to Severe
F235C [126] n.d. (+) Severe
R265X [198] (−) (−) Severe
  1. (−) = Loss of function. (+) = Gain of function. n.d. = not determined