PWWP3B

Chr X

PWWP domain containing 3B

Also known as: MUM1L1

NCBI Gene: 139221 ENSG00000157502 UniProt: Q5H9M0

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.

ResearchSummary from RefSeq

This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.53

LOEUF

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Mechanism