The Spectra of Disease-Causing Mutations in the Ferroportin 1 (<i>SLC40A1</i>) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

<div>Ribbon representation of the 3D structure of human SLC40A1 in complex with hepcidin (pdb 6WBV), highlighting the distribution of the loss-of-function mutations (a) and gain-of-function mutations (b). The hepcidin hyposideremic hormone is colored in magenta. Amino acids for which mutations are reported as LoF are colored in green, whereas those for which mutations are reported as GoF are colored in red. Banners indicate the considered amino acid changes and their positions within the protein. The positions of the two divalent metal-binding sites within the central cavity are delimited by blue ellipses. The protein was positioned in a lipid bilayer using the PPM web server [<a href="/journals/humu/2023/5162256/#B75">75</a>].</div>

Human Mutation

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Figure 2: The Spectra of Disease-Causing Mutations in the Ferroportin 1 (<i>SLC40A1</i>) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease) 

Figure 2 | The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease) 