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Article

Functional and Structural Features of Disease-Related Protein Variants

1
Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy
2
Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IBIOM), Italian National Research Council (CNR), 70126 Bari, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(7), 1530; https://doi.org/10.3390/ijms20071530
Received: 8 February 2019 / Revised: 22 March 2019 / Accepted: 22 March 2019 / Published: 27 March 2019
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. View Full-Text
Keywords: genetic variations; disease-related protein variations; protein structure; polar solvent accessible surface; disease-related Pfam domains; disease-related reactome pathways genetic variations; disease-related protein variations; protein structure; polar solvent accessible surface; disease-related Pfam domains; disease-related reactome pathways
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MDPI and ACS Style

Savojardo, C.; Babbi, G.; Martelli, P.L.; Casadio, R. Functional and Structural Features of Disease-Related Protein Variants. Int. J. Mol. Sci. 2019, 20, 1530. https://doi.org/10.3390/ijms20071530

AMA Style

Savojardo C, Babbi G, Martelli PL, Casadio R. Functional and Structural Features of Disease-Related Protein Variants. International Journal of Molecular Sciences. 2019; 20(7):1530. https://doi.org/10.3390/ijms20071530

Chicago/Turabian Style

Savojardo, Castrense, Giulia Babbi, Pier L. Martelli, and Rita Casadio. 2019. "Functional and Structural Features of Disease-Related Protein Variants" International Journal of Molecular Sciences 20, no. 7: 1530. https://doi.org/10.3390/ijms20071530

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