Figure 2. Mutation analysis of GJA3 in family Sh. A: Sequence profile of the wild-type allele showing translation of valine (V) at codon 44 (GTG) in exon 2. B: Sequence trace of the mutant allele showing the heterozygous c.130G>A transition (denoted R by the International Union of Pure and Applied Chemistry [IUPAC] code) at the first base of codon 44 (ATG) that is predicted to result in a missense substitution of methionine (M) for valine (p.V44M). C: Restriction fragment length analysis on agarose gels showing gain of an Hsp92 II site (5′CATG↓) that co-segregated with affected individuals heterozygous for the mutant A-allele (167/174 bp) but not with unaffected individuals homozygous for the wild-type G-allele (341 bp).