TUBA3C
Chr 13tubulin alpha 3c
Also known as: TUBA2, bA408E5.3
This alpha tubulin protein is a major constituent of microtubules, forming heterodimers with beta-tubulin that polymerize into the cytoskeletal structures essential for cell division, intracellular transport, and neuronal function. Mutations in TUBA3C cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early infancy. The gene shows tolerance to loss-of-function variants (pLI 0.005), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
98 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 28 | 0 | 28 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 57 | 6 | 0 | 63 |
Likely Benign | 0 | 0 | 1 | 2 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 57 | 36 | 2 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TUBA3C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools