PWWP3B
Chr XPWWP domain containing 3B
Also known as: MUM1L1
This gene encodes a protein containing a mutated melanoma-associated antigen 1 domain that is expressed at high levels in certain cancers. Biallelic mutations in PWWP3B cause a severe neurodevelopmental disorder characterized by intellectual disability, seizures, and distinctive facial features, following an autosomal recessive inheritance pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.531), consistent with its role in normal neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PWWP3B · 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