Classic dopamine transporter deficiency syndrome: genes and variants
Classic dopamine transporter deficiency syndrome is linked to 1 analyzed protein (SLC6A3). 3 DNA variants are known to cause it; 14 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Classic dopamine transporter deficiency syndrome
SLC6A3: Sodium-dependent dopamine transporter
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.
3 disease-causing and 14 uncertain variants in SLC6A3 are linked to Classic dopamine transporter deficiency syndrome.
Known disease-causing variants in Classic dopamine transporter deficiency syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC6A3 P395L | 395 | Extracellular | Disease-causing |
| SLC6A3 L224P | 224 | Extracellular | Disease-causing |
| SLC6A3 L368Q | 368 | Transmembrane | Disease-causing |
Diseases related to Classic dopamine transporter deficiency syndrome
- Alzheimer disease, also linked to SLC6A3
- Parkinsonism-dystonia, infantile, also linked to SLC6A3
Frequently asked questions
Which genes are linked to Classic dopamine transporter deficiency syndrome?
In CATVariant, Classic dopamine transporter deficiency syndrome is linked to 1 analyzed protein: SLC6A3 (Sodium-dependent dopamine transporter).
How many genetic variants are linked to Classic dopamine transporter deficiency syndrome?
17 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Classic dopamine transporter deficiency syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center