Article

Pathogenic variations illuminate functional constraints in intrinsically disordered proteins

2025-05-06

Abstract excerpt

Intrinsically disordered regions (IDRs) play key roles in cellular signaling and regulation, yet their contribution to human disease remains poorly understood. Here we analyzed nearly one million ClinVar missense variants, focusing on those located within IDRs defined by curated and predicted annotations. We found that pathogenic variants were significantly enriched in short linear motifs (SLiMs) and disordered bi...

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Literature Corpus work: 80ceb479-9f53-5e98-af47-0fe774c0bb00
DOI: 10.1101/2025.05.01.651640

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