Fig. 6

Structural basis of CPS1 function and defects. A bar chart consisting of the structural domains of the CPS1 peptide, color coded with the different structural domains, with arrows at the top of the bar chart indicating the position of all amino acid substitutions in Table 2, red font for late onset, red bold font for the mutation site in the child with this case, and black font for early onset, with the number of the first and last residue of each structural domain given at the bottom of the bar chart. The color codes of the different structural domains are also used in the other panels. The masses of the different structural domains, in kDa, are shown in black in the bar chart. The question marks indicate the so-called oligomeric structural domains of EcCPS