PARK7 (Parkinson disease protein 7) variants and mutations

PARK7 (also known as Parkinson disease protein 7) is a human protein-coding gene encoding a parkinson disease protein 7 protein. It supports mitochondrial quality control, redox homeostasis, and cellular responses to oxidative stress. Biallelic loss-of-function variants cause a rare autosomal recessive form of early-onset Parkinson disease. This analysis covers 392 PARK7 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes Young adult-onset Parkinsonism, Parkinson disease, and young-onset Parkinson disease. Example PARK7 variants include A2S, A2T, and A2D.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable PARK7 variants

Examples include A2S, A2T, A2D, A2V, A2A, S3F, S3Y, S3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.