A. Wilgoss et al., Identification of a novel mutation R42P in the gap junction protein beta-3associated with autosomal dominant erythrokeratoderma variabilis, J INVES DER, 113(6), 1999, pp. 1119-1122
We report a missense mutation in the gap junction protein beta-3 (encoding
Connexin 31), which was detected in only the affected members of a family i
n which the autosomal dominant skin disease erythrokeratoderma variabilis w
as segregating. The nucleotide change results in an arginine to proline sub
stitution in codon 42. This residue is positioned on the first transmembran
e/first extracellular domain of the gap junction protein with the mutation
replacing a negatively charged residue with a nonpolar residue. This change
may disrupt the conformation of the protein and voltage gating polarity le
ading to impaired channel function.