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. 2020 Jan 31;48(6):3328–3342. doi: 10.1093/nar/gkaa062

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© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 4. — Structure of the selected missense mutations of FANCA from the Fanconi Anemia Mutation Database (http://www2.rockefeller.edu/fanconi/) and Catalogue of Somatic Mutations in Cancer (https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=FANCA). (A) An overall structure of the FANCA CTD complexed with the FANCG CTD (purple). The selected FA- and cancer-associated mutations are illustrated in space filling model. FANCA CTD (green) is shown in surface representation. FANCG is packed against the C-terminal end of a FANCA CTD molecule. (B) A mutated residue analyzed in the present study is shown in yellow color. Trp1274 (Trp1302Arg mutation in human FANCA). (C) Arg1028 (Arg1055Trp). (D) Met1333 (Met1360Ile). (E) Phe1236 (Phe1262Leu) and Phe1237 are patient-derived missense and deletion mutation, respectively. (F) Leu1055 (Leu1082Pro).