ArticleInternational journal of molecular sciences2019
Functional and Structural Features of Disease-Related Protein Variants.
Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation.The Journal of biological chemistry · 2025Article
- Protein structural domain-disease association prediction based on heterogeneous networks.BMC genomics · 2025Article
- Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy.International journal of molecular sciences · 2024Article
- Graphene Oxide-Protein-Based Scaffolds for Tissue Engineering: Recent Advances and Applications.Polymers · 2022Review
- Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping.Frontiers in molecular biosciences · 2022Article
- A Glance into MTHFR Deficiency at a Molecular Level.International journal of molecular sciences · 2021Article
- DeepREx-WS: A web server for characterising protein-solvent interaction starting from sequence.Computational and structural biotechnology journal · 2021Article
- Mapping OMIM Disease-Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes.Frontiers in molecular biosciences · 2021Article
- Protein-Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations.Biomolecules · 2020Article
- Solvent Accessibility of Residues Undergoing Pathogenic Variations in Humans: From Protein Structures to Protein Sequences.Frontiers in molecular biosciences · 2020Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Modern sequencing technologies provide an unprecedented amount of data of single-nucleotide variations occurring in coding regions and leading to changes in the expressed protein sequences. A significant fraction of these single-residue variations is linked to disease onset and collected in public databases. In recent years, many scientific studies have been focusing on the dissection of salient features of disease-related variations from different perspectives. In this work, we complement previous analyses by updating a dataset of disease-related variations occurring in proteins with 3D structure. Within this dataset, we describe functional and structural features that can be of interest for characterizing disease-related variations, including major chemico-physical properties, the strength of association to disease of variation types, their effect on protein stability, their location on the protein structure, and their distribution in Pfam structural/functional protein models. Our results support previous findings obtained in different data sets and introduce Pfam models as possible fingerprints of patterns of disease related single-nucleotide variations.
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