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Figure 6 | Orphanet Journal of Rare Diseases

Figure 6

From: Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Figure 6

Fusion of the exon borders and repeat alignment. (A) The 24 repeats are represented by the exons encoding them (not by their helices) as rectangles with the following color code: orange for even-numbered exons and light yellow for odd-numbered exons. The frameshifting exon borders are shown as blue triangles. The approximate position of the helices is indicated above the figure. (B) Focus on the deletion site for the deletion of exons 13 to 44, showing the reconstitution of a hybrid repeat by the joining of exons 12 and 45 (in green), maintaining the phasing of exon coding for a reconstituted B helix. (C) Focus on the deletion site for the deletion of exons 45 to 47, showing how the joining of exons 44 and 48 (in red) does not respect the phasing of the repeats and the presence of an extra sequence inconsistent with a repeat. (D) Focus on the deletion site for the deletion of exons 45 to 48, showing how the hybrid repeat can be reconstituted by the joining of exons 44 and 49 (in green), maintaining the phasing of the exons encoding a reconstituted B helix

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