TUBA1A-associated tubulinopathy: genes and variants
TUBA1A-associated tubulinopathy is linked to 1 analyzed protein (TUBA1A). 3 DNA variants are known to cause it; 1 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 TUBA1A-associated tubulinopathy
TUBA1A: Tubulin alpha-1A chain
An alpha-tubulin chain that pairs with beta-tubulin to build microtubules. Microtubules provide tracks for transport and help shape dividing and migrating cells, making TUBA1A especially important for fetal brain development.
3 disease-causing and 1 uncertain variants in TUBA1A are linked to TUBA1A-associated tubulinopathy.
Known disease-causing variants in TUBA1A-associated tubulinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TUBA1A G436D | 436 | Disease-causing (★★) | |
| TUBA1A V118L | 118 | Disease-causing (★★) | |
| TUBA1A G416S | 416 | Disease-causing (★★) |
Same protein, different disease
- Tubulinopathy is also caused by TUBA1A variants; they fall mostly in different places as the TUBA1A-associated tubulinopathy variants (101 disease-causing).
- Lissencephaly due to TUBA1A mutation is also caused by TUBA1A variants; they fall mostly in different places as the TUBA1A-associated tubulinopathy variants (62 disease-causing).
- Tubulinopathy-associated dysgyria is also caused by TUBA1A variants; they fall mostly in different places as the TUBA1A-associated tubulinopathy variants (6 disease-causing).
Diseases related to TUBA1A-associated tubulinopathy
- Tubulinopathy, also linked to TUBA1A
- Autosomal recessive limb-girdle muscular dystrophy, also linked to TUBA1A
- Lissencephaly due to TUBA1A mutation, also linked to TUBA1A
- Gastric cancer, also linked to TUBA1A
- Non-small cell lung carcinoma, also linked to TUBA1A
- West syndrome, also linked to TUBA1A
- Multiple myeloma, also linked to TUBA1A
- Familial Mediterranean fever, also linked to TUBA1A
- Tubulinopathy-associated dysgyria, also linked to TUBA1A
- Prostate cancer, also linked to TUBA1A
- Cervical cancer, also linked to TUBA1A
Frequently asked questions
Which genes are linked to TUBA1A-associated tubulinopathy?
In CATVariant, TUBA1A-associated tubulinopathy is linked to 1 analyzed protein: TUBA1A (Tubulin alpha-1A chain).
How many genetic variants are linked to TUBA1A-associated tubulinopathy?
4 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in TUBA1A-associated tubulinopathy 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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