Figure 1.

Identification of biallelic COQ7 variants in families with distal hereditary motor neuropathy. (A) Pedigree of nine families with 11 affected individuals harbouring biallelic variants in COQ7. (B and C) The diagram illustrates the variants’ positions at the cDNA (B) and protein levels (C). (D) 3D structural model of human COQ7 protein predicted by AlphaFold (Q49A71_HUMAN) and illustrated by PyMOL. Residues mutated in patients are depicted in red. The mitochondrial targeting signal is labelled in red, and the ferritin-like superfamily in blue. (E) Protein alignment showing conservation across different species. Variants are highlighted in red. MTS = mitochondrial targeting signal.