FIGURE 3.

Structural representation of selected EARS2 residues with pathogenic variants. A, Schematic of EARS2 protein with functional domains. The selected disease-associated variants are indicated, with mild variants in blue and severe variants in red. MTS, mitochondrial targeting sequence. B, Three-dimensional structure of EARS2 homology model with highlighted variant positions (upper left panel). The enlargements show the local interaction for each residue as described in the text. The residues associated with mild COXPD12 are in blue and with severe COXPD12 in red