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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Figure 2

Representation of FGE and the main mutated residues identified in this and previous studies. Cartoon representation of the FGE structure (PDB code 1Y1E) with helices in blue, beta-strands in violet, and loops in yellow. Represented in ball-and-stick and labelled are (i) essential or important residues for substrate binding and catalytic activity (orange carbon atoms), (ii) residues whose mutations have been previously described (magenta carbon atoms) [6,16,17,27], and (iii) newly identified mutations (cyan carbon atoms). N, O, and S atoms are in blue, red, and green, respectively. The two structural calcium ions are also represented (green spheres).

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