Article

Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation

2025-02-24

Abstract excerpt

The impact of missense genetic variations on protein function is often enigmatic, especially for mutations that map to intrinsically disordered regions (IDRs). Given the functional importance of phase separation of IDRs, it has been proposed that mutations that modulate phase separation might preferentially lead to disease. To examine this idea, we used the robust predictability of phase-separating (PS) IDRs and a...

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Literature Corpus work: a4a354aa-354b-57af-937a-d3d36c83d9d7
DOI: 10.1101/2025.02.19.639140

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