MAP10
Chr 1microtubule associated protein 10
Also known as: KIAA1383, MTR120
The protein is a microtubule-associated protein that promotes microtubule stability and participates in spindle midzone organization during cell division. Mutations cause neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, inherited in an autosomal recessive pattern. The gene shows extremely high constraint against loss-of-function variants (pLI ~1), indicating that such variants are likely to be pathogenic when present in the homozygous or compound heterozygous state.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
225 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 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 127 | 34 | 0 | 161 |
Likely Benign | 0 | 15 | 7 | 1 | 23 |
Benign | 0 | 2 | 0 | 0 | 2 |
| Total | 0 | 144 | 79 | 1 | 224 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MAP10 · 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