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Figure 2 | Molecular Medicine

Figure 2

From: Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

Figure 2

Crystal structure of the human MAT IA. (A) Monoallelic mutations (red color) are located on the dimer interface (red dotted circle) or SAM binding site (blue dotted circle), whereas biallelic mutations (blue color) are located distant from the dimer interface. (B) p.Gly280 and p.Arg264 are located on the dimeric interface, facing each other. (C) p.Arg249 is located on the SAM binding pocket as well as on the dimer interface. (D-F) Three missense mutations (p.Arg249Gln, p.Arg264His and p.Gly280Arg) are shown in black color with their structural changes.

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Molecular Medicine

ISSN: 1528-3658