DMAP1
Chr 1DNA methyltransferase 1 associated protein 1
Also known as: DNMAP1, DNMTAP1, EAF2, MEAF2, SWC4
The protein functions as a transcriptional regulator that both represses and activates gene expression through interactions with histone-modifying complexes, including histone deacetylases and the NuA4 histone acetyltransferase complex. DMAP1 mutations cause autosomal recessive intellectual disability with variable additional features including microcephaly and seizures. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DMAP1 · 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 →External Resources
Links to major genomics databases and tools