Dominant negative variants in ATP5F1A uncouple oxidative phosphorylation and are associated with developmental delay, intellectual disability, and movement abnormalities.

Whole cell unlabeled proteomics data were collected from fibroblasts of patients with defects in Complex V of the respiratory chain. These are patients 1 and 4 in the publication. Further, whole cell unlabeled proteomics data were collected from peripheral blood mononuclear cells of a patient with a defect in complex V of the respiratory chain and the parents. This is patient 2 in the publication.