Table 1 Effect of mutations in Cx26 (GJB2) on the functional state of HCs and GJCs evaluated in a heterologous expression system, the domain that is affected and its phenotype

NT

M1V, T8M, G12V [13], [123], [132]–[136]

(−)

n.d.

NS, Profound, Moderate

G11E [130], [136], [137]

n.d.

(+)

S, Profound. KID

G12R^(+*), N14K [13], [123], [136], [138]

(−)

(+)

S, Mild, Severe. KID/EKV

N14D [139]

n.d.

(−)

NS, Moderate

N14Y^(+*) [13], [39], [136]

(−)

(+)

S, Profound. KID

S17F^(+*) [13], [40], [123], [136]

(−)

(−)

S, SNHL. KID

TM1

V27I [140]

Normal

Normal

NS, HL and Normal

I33T [141]

(−)

n.d.

NS, Severe to Profound

M34T [36], [115], [142]–[146]

(−)

(−)

NS, Mild to Moderate; S, Profound. PPK

V37I, A40G [113], [143], [147]–[149]

(−)

(−)

NS, Mild-Moderate, Severe

A40V [124], [136], [150], [151]

Normal

(+)

S, Profound. KID

ECL1

DelE42, D66H [152]–[159]

(−)

n.d.

S, Profound, Moderate to Profound. PPK

W44C, W44S, D46E, T55N [142], [143], [152], [153], [159]–[163]

(−)

n.d.

NS, Severe to Profound, HL, Moderate, Severe

G45E [124], [130], [150], [164]–[166]

Normal

(+)

S, Profound. KID

E47K [164], [167]

(−)

(−)

NS, Severe to Profound

D50A [168], [169]

n.d.

(+)

S, Profound. KID

D50N [123], [137], [151], [170]–[172]

(−)

(+)

S, Profound. KID

G59V [144], [173]

n.d.

(−)

NS, Profound

R75Q, R75W [37], [134], [136], [141], [152]–[154], [174]

(−)

(−)

S, Severe to Profound. PPK

TM2

W77R, F83L, L90V, V95M [37], [135], [142], [143], [147], [173], [175], [176]

(−)

n.d.

NS, Moderate to Profound, Moderate, Profound

I82M [144], [177]

n.d.

(−)

NS, Profound

V84L [51], [147], [148], [178], [179]

Normal/No IP3 transfer

n.d

NS. Profound

T86R, A88S, L90P [132], [143], [144], [147], [160], [180]

(−)

(−)

NS, Profound, Moderate to Profound, Mild to Moderate

A88V [136], [168], [181]

n.d.

(+)

S, Severe to Profound. KID

ICL

E114G, R127H [115], [140], [144], [173], [178], [182], [183]

(−)

(−)

NS, Severe to Profound, Profound

DelE120 [141], [143], [147]

(−)

n.d.

NS, Severe to Profound

TM3

R143Q, R153I [133], [152], [153], [183], [184]

(−)

n.d.

NS, Profound

R143W [133], [144], [178], [185], [186]

(−)

(−)

NS, Profound

ECL2

F161S, P173R, D179N, R165W, W172R, R184P, R184Q [132], [141], [143], [147], [152], [153], [187]–[190]

(−)

n.d.

NS, HL, Severe to Profound, Profound

M163L [191]

n.d

(+)

NS, Moderate to Profound

S183F [136], [192]

(−)

n.d.

S, High Frequency HL. PPK

TM4

M195T, A197S,206S, L214P [133], [135], [190], [193], [194]

(−)

n.d.

NS, HL, Moderate, Profound

C202F [153], [193], [195]

n.d.

(−)

NS, Mild to Moderate

I203T, L205V [179], [193], [196]

(−)

(−)

NS, HL, Profound