Known allosteric proteins have central roles in genetic disease

Citation: Abrusán G, Ascher DB, Inouye M (2022) Known allosteric proteins have central roles in genetic disease. PLoS Comput Biol 18(2): e1009806. https://doi.org/10.1371/journal.pcbi.1009806

Editor: Turkan Haliloglu, Bogazici University, TURKEY

Received: July 30, 2021; Accepted: January 5, 2022; Published: February 9, 2022

Copyright: © 2022 Abrusán et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Data Availability: The following public databases were used in the study: Allosteric Database (http://mdl.shsmu.edu.cn/ASD/), ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/), OMIM (https://www.omim.org/), UniProt (https://www.uniprot.org/diseases/), DrugBank (https://go.drugbank.com/), The Open Biological and Biomedical Ontology Foundry (http://www.obofoundry.org/ontology/doid.html), Gene Ontology, (http://geneontology.org/docs/downloads), eggNOG Database (http://eggnog5.embl.de/#/app/home), comorbidity network (http://nlp.case.edu/public/data/FAERS_comb/), GWAS catalog (https://www.ebi.ac.uk/gwas/), IntAct (https://www.ebi.ac.uk/intact/home), BioGrid (https://thebiogrid.org/), gnomAD (https://gnomad.broadinstitute.org/downloads), Appris database (https://apprisws.bioinfo.cnio.es/landing_page/). We used the 2014 version of HGMD, the current HGMD can be acquired from Qiagen (https://www.qiagen.com/us/products/discovery-and-translational-research/next-generation-sequencing/informatics-and-data/interpretation-content-databases/hgmd/), individual genes can be accessed at (http://www.hgmd.cf.ac.uk/ac/index.php). The code used in the study is available from the corresponding author upon request.

Funding: G.A. and M.I were supported by the Cambridge-Baker Systems Genomics Initiative. M.I. was supported by the Munz Chair of Cardiovascular Prediction and Prevention. This work was supported by core funding from the: British Heart Foundation (RG/13/13/30194; RG/18/13/33946), BHF Cambridge Centre of Research Excellence (RE/13/6/30180), and NIHR Cambridge Biomedical Research Centre (BRC-1215-20014)*. It was also supported by Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Department of Health and Social Care (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates, Health and Social Care Research and Development Division (Welsh Government), Public Health Agency (Northern Ireland), British Heart Foundation and Wellcome. Additionally, this work was supported by the NHMRC GNT1174405 grant for D.A. and in part by the Victorian Government’s Operational Infrastructure Support Program. The authors declare no competing interests. *The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing interests: The authors have declared that no competing interests exist.

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