Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases

bioRxiv (Cold Spring Harbor Laboratory)

Abstract

Abstract The seamless integration of human disease-related mutation data into protein structures is an essential component of any attempt to correctly assess the impact of the mutation. The key step preliminary to any structural modelling is the identification of the correct isoform onto which mutations should be mapped because there are several functionally different protein isoforms from the same gene. To handle large sets of data coming from omics techniques, this challenging task should be automatized. Here we present our code MoNvIso ( Mo delling e Nv ironment for Iso forms), which pinpoints the correct isoform associated with the mutation of interest and builds a structural model of both the wild type isoform and the related variants starting from the name of the gene and the list of mutations of interest.

Authors 8

1. Francesco Oliva

   Forschungszentrum Jülich · University of Cagliari

   Affiliation as printed

   Department of Physics, University of Cagliari

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich

   Department of Physics, University of Cagliari, Monserrato (CA), Italy

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany

2. Francesco Musiani

   University of Bologna

   Affiliation as printed

   Laboratory of Bioinorganic Chemistry, Department of Pharmacy and Biotechnology, University of Bologna

   Laboratory of Bioinorganic Chemistry, Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy

3. Alejandro Giorgetti

   University of Verona · Forschungszentrum Jülich

   Affiliation as printed

   Department of Biotechnology, University of Verona

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich

   Department of Biotechnology, University of Verona, Verona, Italy

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany

4. Silvia De Rubeis

   Icahn School of Medicine at Mount Sinai

   Affiliation as printed

   Department of Psychiatry, Icahn School of Medicine at Mount Sinai

   Friedman Brain Institute, Icahn School of Medicine at Mount Sinai

   Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai

   The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai

   Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York City, NY, United States

   Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City, NY, United States

   Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, NY, United States

   The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, NY, United States

5. Oksana Sorokina

   University of Edinburgh

   Affiliation as printed

   The School of Informatics, University of Edinburgh

   The School of Informatics, University of Edinburgh, Edinburgh, United Kingdom

6. J. Douglas Armstrong

   Forschungszentrum Jülich · Simons Initiative for the Developing Brain · University of Edinburgh

   Affiliation as printed

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich

   Simons Initiative for the Developing Brain, University of Edinburgh

   The School of Informatics, University of Edinburgh

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany

   Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom

   The School of Informatics, University of Edinburgh, Edinburgh, United Kingdom

7. Paolo Carloni Aachen Department of Physics

   Forschungszentrum Jülich · Jülich Aachen Research Alliance · RWTH Aachen University

   Affiliation as printed

   Department of Physics, RWTH Aachen University

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich

   JARA-Institute: Molecular Neuroscience and Neuroimaging, Institute for Neuroscience and Medicine INM-11/JARA-BRAIN Institute JBI-2, Forschungszentrum Jülich GmbH

   Department of Physics, RWTH Aachen University, Aachen, Germany

   Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany

   JARA-Institute: Molecular Neuroscience and Neuroimaging, Institute for Neuroscience and Medicine INM-11/JARA-BRAIN Institute JBI-2, Forschungszentrum Jülich GmbH, Jülich, Germany

8. Paolo Ruggerone corresponding

   University of Cagliari

   Affiliation as printed

   Department of Physics, University of Cagliari

   Department of Physics, University of Cagliari, Monserrato (CA), Italy