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Article

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins.

PLoS computational biology - 1 Aug 2025

Fawzy Mohamed, Marsh Joseph A

Abstract excerpt

Intrinsically disordered regions (IDRs) are central to diverse cellular processes but present unique challenges for interpreting genetic variants implicated in human disease. Unlike structured protein domains, IDRs lack stable three-dimensional conformations and are often involved in regulation through transient interactions and post-translational modifications. These features can affect both the distribution of...

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Topics

Intrinsically Disordered Proteins
Humans
Computational Biology
Proteome
Genetic Variation
Protein Conformation
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation, Missense

Source

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Identifiers

PMID: 40828855
DOI: 10.1371/journal.pcbi.1013400
PMCID: PMC12377588

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