Supranuclear palsy, progressive, 1: genes and variants
Supranuclear palsy, progressive, 1 is linked to 1 analyzed protein (MAPT). 6 DNA variants are known to cause it; 3 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 Supranuclear palsy, progressive, 1
MAPT: Microtubule-associated protein tau
Its tau isoforms stabilize and organize neuronal microtubules, especially in axons, while also participating in transport and signaling. Pathogenic variants cause inherited frontotemporal dementia, and abnormal tau aggregation defines multiple neurodegenerative tauopathies.
6 disease-causing and 3 uncertain variants in MAPT are linked to Supranuclear palsy, progressive, 1.
Where Supranuclear palsy, progressive, 1 variants cluster
- MAPT Tau/MAP 2 (positions 592–622): 3 of 6 disease-causing changes, 12.2× more than its size predicts.
Known disease-causing variants in Supranuclear palsy, progressive, 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MAPT P618L | 618 | Tau/MAP 2 | Disease-causing (★★) |
| MAPT R723W | 723 | Disease-causing (★★) | |
| MAPT P618A | 618 | Tau/MAP 2 | Disease-causing (★) |
| MAPT G620V | 620 | Tau/MAP 2 | Disease-causing |
| MAPT S669L | 669 | Tau/MAP 4 | Disease-causing |
| MAPT R5L | 5 | Disease-causing |
Same protein, different disease
- Frontotemporal dementia is also caused by MAPT variants; they fall mostly in different places as the Supranuclear palsy, progressive, 1 variants (17 disease-causing).
- Pick disease is also caused by MAPT variants; they fall mostly in different places as the Supranuclear palsy, progressive, 1 variants (5 disease-causing).
Diseases related to Supranuclear palsy, progressive, 1
- Alzheimer disease, also linked to MAPT
- Frontotemporal dementia, also linked to MAPT
- Pick disease, also linked to MAPT
- Parkinson disease, late-onset, also linked to MAPT
- Parkinson disease, also linked to MAPT
Frequently asked questions
Which genes are linked to Supranuclear palsy, progressive, 1?
In CATVariant, Supranuclear palsy, progressive, 1 is linked to 1 analyzed protein: MAPT (Microtubule-associated protein tau).
How many genetic variants are linked to Supranuclear palsy, progressive, 1?
10 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in Supranuclear palsy, progressive, 1 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.
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