PINK1 (Q9BXM7) variants and mutations

PINK1 (also known as Q9BXM7) is a human protein-coding gene encoding a serine/threonine-protein kinase PINK1, mitochondrial protein. It accumulates on damaged mitochondria and recruits parkin to initiate selective mitophagy and mitochondrial quality control. Biallelic loss-of-function variants cause autosomal recessive early-onset Parkinson disease. This analysis covers 1,224 PINK1 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes Young adult-onset Parkinsonism, Parkinson disease 6, and Dystonia. Example PINK1 variants include A2V, A2E, and A2A.

Variant analysis overview

Gene: PINK1
Protein: Q9BXM7
UniProt accession: Q9BXM7
Organism: Homo sapiens
Variants analyzed: 1224
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 775 unspecified-consequence records; 269 missense variants; 119 synonymous variants; 18 stop-gained variants; 31 frameshift variants; 6 in-frame deletions; 2 in-frame insertions; 3 substitution
Prediction scores: 1,056 variants have prediction scores (86% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Young adult-onset Parkinsonism, Parkinson disease 6, Dystonia, Parkinson disease, young-onset Parkinson disease, hereditary disease, late-onset Parkinson disease, neuroblastoma, Hereditary late-onset Parkinson disease, hepatocellular carcinoma, acute kidney injury, neoplasm.

Protein structure and variant hotspots

Protein features: 1 domains; 2 binding sites; 2 post-translational modification sites.
Structural context: 454 variants have structural context.
PTM context: 3 variants overlap post-translational modification sites.

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 PINK1 variants

Examples include A2V, A2E, A2A, V3M, V3L, V3V, R4*, R4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

PINK1 analysis run — PINK1 (1,224 variants) — completed 2026-08-19