Pathogenic variations illuminate functional constraints in intrinsically disordered proteins

Résumé fourni par la source

and uncovered localized "island-like" patterns of elevated pathogenicity within IDRs. Leveraging these signals, we developed a classifier to prioritize predicted ELM motifs (PEMs), revealing thousands of candidate functional sites linked to major disease classes, including neurological, cardiovascular, and cancer-associated genes. Case studies, including POLK and FOXP2, demonstrate how this approach connects genetic variation to molecular mechanisms. This framework provides a scalable strategy to interpret variants of uncertain significance and defines the functional constraints governing the disordered proteome.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.