SYNJ1 (O43426) variants and mutations

SYNJ1 (also known as O43426) is a human protein-coding gene encoding a polyphosphatidylinositol phosphatase protein. It remodels phosphoinositides during clathrin-mediated synaptic-vesicle recycling and helps nerve terminals rapidly regenerate release-ready vesicles. Biallelic pathogenic variants can cause early-onset parkinsonism or severe developmental and epileptic encephalopathy. This analysis covers 50 SYNJ1 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes atypical juvenile parkinsonism, genetic developmental and epileptic encephalopathy, and hereditary disease. Example SYNJ1 variants include S19A, R219Q, and K295R.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SYNJ1 variants

Examples include S19A, R219Q, K295R, Q287PfsX27, R420P, Y793C, R800C, Y849C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.