TUBB3-related tubulinopathy: genes and variants
TUBB3-related tubulinopathy is linked to 1 analyzed protein (TUBB3). 5 DNA variants are known to cause it; 2 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 TUBB3-related tubulinopathy
TUBB3: Tubulin beta-3 chain
It forms neuronal microtubules required for axon growth, guidance, and intracellular transport. Heterozygous pathogenic variants can cause congenital fibrosis of the extraocular muscles type 3 and broader tubulinopathy phenotypes with brain and cranial-nerve abnormalities.
5 disease-causing and 2 uncertain variants in TUBB3 are linked to TUBB3-related tubulinopathy.
Known disease-causing variants in TUBB3-related tubulinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TUBB3 R262H | 262 | Disease-causing (★★) | |
| TUBB3 E288K | 288 | Disease-causing (★★) | |
| TUBB3 E410K | 410 | Disease-causing (★★) | |
| TUBB3 D417N | 417 | Disease-causing (★★) | |
| TUBB3 G71R | 71 | Disease-causing (★★) |
Same protein, different disease
- Complex cortical dysplasia with other brain malformations 7 is also caused by TUBB3 variants; they fall mostly in different places as the TUBB3-related tubulinopathy variants (23 disease-causing).
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement is also caused by TUBB3 variants; they fall partly in the same places as the TUBB3-related tubulinopathy variants (6 disease-causing).
Diseases related to TUBB3-related tubulinopathy
- Complex cortical dysplasia with other brain malformations 7, also linked to TUBB3
- Ovarian cancer, also linked to TUBB3
- Non-small cell lung carcinoma, also linked to TUBB3
- Spastic ataxia, also linked to TUBB3
- Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to TUBB3
- Familial Mediterranean fever, also linked to TUBB3
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement, also linked to TUBB3
- Myocardial infarction, also linked to TUBB3
- Prostate cancer, also linked to TUBB3
- Cervical cancer, also linked to TUBB3
Frequently asked questions
Which genes are linked to TUBB3-related tubulinopathy?
In CATVariant, TUBB3-related tubulinopathy is linked to 1 analyzed protein: TUBB3 (Tubulin beta-3 chain).
How many genetic variants are linked to TUBB3-related tubulinopathy?
7 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in TUBB3-related 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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