Figure 1.

DLST Protein Structure

(A) A schematic representation of DLST (15 exons) indicating the main active sites and all variants found in this study. Vertical bars represent the number of individuals carrying each variant.

(B) A multiple-sequence alignment and DLST residue conservation across different species determined with MultAlin software; high consensus is marked in red, neutral in black, and low consensus in blue. The blue arrows = predicted active sites in E. coli DLST. The black arrows indicate the different amino acids found mutated in our affected individuals.

(C) A predicted structural model of the DLST catalytic domain. The catalytic residues are colored blue and indicated by blue arrows. The variants found in this study have been modeled, colored black, and are indicated by black arrows. The position of the putative substrate binding site is indicated with gray spheres for clarity.