TUBB3 (Tubulin beta-3 chain) variants and mutations

TUBB3 (also known as Tubulin beta-3 chain) is a human protein-coding gene encoding a tubulin beta-3 chain protein. 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. This analysis covers 459 TUBB3 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes fibrosis of extraocular muscles, congenital, 3A, with or without extraocular inv, Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation, and complex cortical dysplasia with other brain malformations 1. Example TUBB3 variants include R2K, R2M, and R2W.

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 TUBB3 variants

Examples include R2K, R2M, R2W, R2G, R2R, R2T, R2S, E3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.