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. 2012 Nov 30;7(11):e50579. doi: 10.1371/journal.pone.0050579

Figure 5. Schematic diagram of the consequences of the mutations identified in the RDEB pedigree.

Figure 5

The mutation on exon 8 (c.1006_1007delCA), standing at NC-1 of the COL7A1 gene, leads to a premature termination codon (stop) located 48 amino acids downstream in exon 9, resulting in truncation of 2561 amino acids downstream, which include part of the NC-1, all the collagenous triple helix, and the NC-2. The mutation discovered on intron 65 (c.IVS5568+1delG), located at the collagenous triple helix domain of the COL7A1 gene, immediately creates a stop codon, consequently producing a truncated protein lacking part of 1089 C-terminal amino acids downstream. Abbreviations: TH, triple helix; HR, hinge region; NC-1, amino terminus; NC-2, carboxyl terminus.