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VarQ: a tool for the structural analysis of Human Protein Variants

Leandro Radusky, Carlos Modenutti, Javier Delgado, Juan P. Bustamante, Sebastian Vishnopolska, Christina Kiel, Luis Serrano, Marcelo Marti, Adrián Turjanski
doi: https://doi.org/10.1101/277491
Leandro Radusky
1Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Pabellón II de Ciudad Universitaria de Ciudad Universitaria, C1428EHA, Argentina
2Instituto de Química Biológica Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET. Pabellón II de Ciudad Universitaria, Buenos Aires, C1428EHA, Argentina
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Carlos Modenutti
1Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Pabellón II de Ciudad Universitaria de Ciudad Universitaria, C1428EHA, Argentina
2Instituto de Química Biológica Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET. Pabellón II de Ciudad Universitaria, Buenos Aires, C1428EHA, Argentina
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Javier Delgado
4EMBL/CRG Systems Biology Research Unit, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain
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Juan P. Bustamante
1Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Pabellón II de Ciudad Universitaria de Ciudad Universitaria, C1428EHA, Argentina
2Instituto de Química Biológica Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET. Pabellón II de Ciudad Universitaria, Buenos Aires, C1428EHA, Argentina
3Facultad de Ingeniería de la Universidad Nacional de Entre Ríos (FI-UNER), Oro Verde, Entre Ríos, Argentina
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Sebastian Vishnopolska
1Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Pabellón II de Ciudad Universitaria de Ciudad Universitaria, C1428EHA, Argentina
2Instituto de Química Biológica Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET. Pabellón II de Ciudad Universitaria, Buenos Aires, C1428EHA, Argentina
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Christina Kiel
4EMBL/CRG Systems Biology Research Unit, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain
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Luis Serrano
4EMBL/CRG Systems Biology Research Unit, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Dr. Aiguader 88, 08003 Barcelona, Spain
5Catalan Institution for Research and Advanced Studies (ICREA), Passeig Lluís Companys 23, Barcelona 08010, Spain
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Marcelo Marti
1Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Pabellón II de Ciudad Universitaria de Ciudad Universitaria, C1428EHA, Argentina
2Instituto de Química Biológica Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET. Pabellón II de Ciudad Universitaria, Buenos Aires, C1428EHA, Argentina
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  • For correspondence: aturjans@gmail.com marti.marcelo@gmail.com
Adrián Turjanski
1Departamento de Química Biológica Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Pabellón II de Ciudad Universitaria de Ciudad Universitaria, C1428EHA, Argentina
2Instituto de Química Biológica Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET. Pabellón II de Ciudad Universitaria, Buenos Aires, C1428EHA, Argentina
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  • For correspondence: aturjans@gmail.com marti.marcelo@gmail.com
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Abstract

Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. Even though there are several bioinformatic algorithms and servers that predict if a SAS can be pathogenic or not they give little or non-information on the actual effect on the protein function. Moreover, many of these algorithms are able to predict an effect that no necessarily translates directly into pathogenicity. VarQ Web Server is an online tool that given an UniProt id automatically analyzes known and user provided SAS for their effect on protein activity, folding, aggregation and protein interactions among others. VarQ assessment was performed over a set of previously manually curated variants, showing its ability to correctly predict the phenotypic outcome and its underlying cause. This resource is available online at http://varq.qb.fcen.uba.ar/.

Contact: lradusky{at}qb.fcen.uba.ar

Supporting Information & Tutorials may be found in the webpage of the tool.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted March 07, 2018.
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VarQ: a tool for the structural analysis of Human Protein Variants
Leandro Radusky, Carlos Modenutti, Javier Delgado, Juan P. Bustamante, Sebastian Vishnopolska, Christina Kiel, Luis Serrano, Marcelo Marti, Adrián Turjanski
bioRxiv 277491; doi: https://doi.org/10.1101/277491
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VarQ: a tool for the structural analysis of Human Protein Variants
Leandro Radusky, Carlos Modenutti, Javier Delgado, Juan P. Bustamante, Sebastian Vishnopolska, Christina Kiel, Luis Serrano, Marcelo Marti, Adrián Turjanski
bioRxiv 277491; doi: https://doi.org/10.1101/277491

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