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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

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 4

Screenshot of data available for the deletion of exons 45 to 49. (A) A general view of the webpage after loading. Description of the mutation at the nucleotide and protein levels, cDNA and protein size, the molecular weight of the mutated protein, a link to cDNA and protein sequences and a list of references reporting patients carrying the mutation are available in table form. Detailed information about clinical data, structural and binding domains and models of three-dimensional structure can be obtained by clicking on the boxes below. (B) The “Clinical data” tab on the first line provides access to a table showing the distribution of phenotypes. In the second line, pie-charts showing the amount and size of dystrophin, as determined by western blotting, the presence of cardiomyopathy and mental retardation are given. (C) The “Structural domains” tab provides a schematic representation of the mutated dystrophin. The sequences of each protein domain are available. (D) The “Binding domains” tab indicates, in red, the changes to the binding domains caused by the mutations listed in the table. (E) The “3D-structure model of the mutation site tab shows the model of the three-dimensional structure of the domains around the mutation junctions (here R16, R17, R19 and H3). The secondary structure predicted by I-TASSER is displayed above the model. The PDB file and the Ramachandran plot are also available. The modeling tab is available only for the deletion of exons encoding part of the central rod domain. All information can be saved down in the form of PDF files.

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