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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