Location of mutations identified within hHOGA of PH3 patients.

(A) Close-up view of one hHOGA monomer. The cartoon of the protein has been made partially transparent so that the PH3 mutations (spheres; see legend) are highlighted. The G-X-X-G-E motif is illustrated as a blue cartoon tube. The portion of the protein structure leading from the P190L variant to the active site Lys196-pyruvate adduct (stick rendering) is shown in magenta. (B) Three orthogonal views of the hHOGA tetramer illustrate the proximity of the mutations to the monomer-monomer (red dashed line) and dimer-dimer interfaces (blue dashed line). The red and blue squares indicate when an axis is projecting out toward the viewer.