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Table 3 Effect of mutations in Cx43 (GJA1) 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

Mutant

GJCs Function

HCs Function

Phenotype

NT

G2V, D3N, W4A, L7V, L11P, S18P [79], [92], [223]–[225]

(−)

n.d.

ODDD

G12R, Y17S [79], [90], [92], [223], [226]–[228]

(−)

(−)

ODDD

TM1

I31M [91], [229]

(−)

(+)

ODDD

R33X [81], [230]

(−)

n.d.

Small deep-set eyes, syndactyli, dental abnormalities

ECL1

A40V, L90V, F52dup [79], [226], [227], [229], [231]

(−)

(−)

ODDD

E42K [232], [233]

(−)

n.d.

Sudden infant death, lethal ventricular arrhythmias

Q49K [79], [227], [231], [234]

(−)

n.d.

ODDD

S69P [235]

(−)

n.d.

Nonsyndromic Hearing Loss

R76H [230], [236]

(−)

n.d.

Hallermann-Streiff syndrome: small stature, hypotrichosis, teeth and skeletal abnormalities

ICL

I130T [79], [89], [226], [227]

(−)

(−)

ODDD

K134E, T154A [89], [226], [236]–[239]

(−)

n.d.

ODDD

G138R, G143S [79], [89]–[92]

(−)

(+)

ODDD

H194P [80], [91]

(−)

Normal

ODDD

ECL2

R202H, V216L [79], [92], [226], [228], [229], [231]

(−)

n.d.

ODDD

TM4

Fs230, Fs260 [92], [240]

(−)

n.d.

ODDD

S272P [232]

Normal

n.d.

Sudden infant death

CT

T326I [235]

(−)

n.d.

Nonsyndromic Hearing Loss

S364P [98], [241]

(−)

n.d.

Viscero-atrial heterotaxia/heart malformations

  1. (−) = Loss of function. (+) = Gain of function. n.d. = not determined