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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

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 2

Representation of the dystrophin proteins generated from genes with several types of deletions. (A) Illustration of the proteins produced from genes with deletions of exons corresponding to the 3’ terminus encoding actin-binding domain 1. The red spot indicates the deletion site. (B) Deletion of exons 35 to 44: representation of the entire molecule with a tag at the deletion site and a model of the three-dimensional structure at the deletion site, showing that a hybrid repeat is reconstituted from parts of repeats 2 and 17. (C) Deletion of exons 45 to 47: representation of the entire molecule with a tag at the deletion site and the homology model of three-dimensional structure at the deletion site, showing that the junction between the C-terminal part of repeat 17 and the N-terminal part of repeat 18 does not allow the reconstitution of a hybrid repeat. (D) Deletion of exons 45 to 48: representation of the entire molecule with a tag at the deletion site and the homology model of the three-dimensional structure at the deletion site, showing that a hybrid repeat is formed from parts of repeats 17 and 18.

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