Figure 2.

Mutations in human CFTR exon 9, its intronic boundaries, and homologous sequences in the human genome. A: Name and localization of potentially incorrect mutations (pseudomutations). These variants could be a consequence of local sequence identity with similar regions in the human genome that result in a severely increased frequency of priming artifacts. B: Horizontal lines show human chromosomal regions with homology to CFTR exon 9 and its intronic boundaries, and arrowheads show positions of mutations found within these homologous sequences (based on CLUSTALW multiple alignment analysis).