Sequence of the exon-intron junctions of the single <i>GJB2</i> intron.

<p>Exonic sequence is shown in capitals, whereas intronic sequence is shown in lowercase italics. The three acceptor splice sites identified in this work appear boxed in bold: KS, known acceptor site; AS1, alternative site 1; AS2, alternative site 2. The ATG start codon appears in bold. Nucleotides affected by the c. -22-2A>C and c.35delG mutations are indicated by arrows. Locations of the primers used for identifying <i>GJB2</i> splicing products are underlined.