SLC6A3 (Q01959) variants and mutations

SLC6A3 (also known as Q01959) is a human protein-coding gene encoding a sodium-dependent dopamine transporter protein. It clears dopamine from the synaptic cleft back into presynaptic neurons and thereby controls the duration and intensity of dopamine signaling. Biallelic pathogenic variants cause dopamine-transporter deficiency syndrome with early dystonia and progressive parkinsonism. This analysis covers 1,097 SLC6A3 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Infantile dystonia-parkinsonism, classic dopamine transporter deficiency syndrome, and parkinsonism-dystonia, infantile. Example SLC6A3 variants include S2G, S2N, and S2R.

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 SLC6A3 variants

Examples include S2G, S2N, S2R, K3N, K3R, S4C, S4I, S4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.