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

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