ArticleFrontiers in molecular biosciences2015
Anatomy of protein disorder, flexibility and disease-related mutations.
Article in Frontiers in molecular biosciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Pathogenicity Prediction of Missense Variations in Hereditary Cancer Genes.International journal of molecular sciences · 2026Article
- Decoding the effects of mutation on protein interactions using machine learning.Biophysics reviews · 2025Review
- AFFIPred: AlphaFold2 structure-based Functional Impact Prediction of missense variations.Protein science : a publication of the Protein Society · 2025Article
- Protein-Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations.Biomolecules · 2020Article
- Modulation of p53 Transactivation Domain Conformations by Ligand Binding and Cancer-Associated Mutations.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2020Article
- Sin1-mediated mTOR signaling in cell growth, metabolism and immune response.National science review · 2019Article
- Residual Structures and Transient Long-Range Interactions of p53 Transactivation Domain: Assessment of Explicit Solvent Protein Force Fields.Journal of chemical theory and computation · 2019Article
- In silico identification of rescue sites by double force scanning.Bioinformatics (Oxford, England) · 2018Article
- HyRes: a coarse-grained model for multi-scale enhanced sampling of disordered protein conformations.Physical chemistry chemical physics : PCCP · 2017Article
- Enhanced Sampling of Intrinsic Structural Heterogeneity of the BH3-Only Protein Binding Interface of Bcl-xL.The journal of physical chemistry. B · 2017Article
- All-Atom MD Predicts Magnesium-Induced Hairpin in Chemically Perturbed RNA Analog of F10 Therapeutic.The journal of physical chemistry. B · 2017Article
- Distribution of single-nucleotide variants on protein-protein interaction sites and its relationship with minor allele frequency.Protein science : a publication of the Protein Society · 2016Article
- Article
- Structural characterization of single nucleotide variants at ligand binding sites and enzyme active sites of human proteins.Biophysics and physicobiology · 2016Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Integration of protein structural information with human genetic variation and pathogenic mutations is essential to understand molecular mechanisms associated with the effects of polymorphisms on protein interactions and cellular processes. We investigate occurrences of non-synonymous SNPs in ordered and disordered protein regions by systematic mapping of common variants and disease-related SNPs onto these regions. We show that common variants accumulate in disordered regions; conversely pathogenic variants are significantly depleted in disordered regions. These different occurrences of pathogenic and common SNPs can be attributed to a negative selection on random mutations in structurally highly constrained regions. New approaches in the study of quantitative effects of pathogenic-related mutations should effectively account for all the possible contexts and relative functional constraints in which the sequence variation occurs.
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