MISCAST : MIssense variant to protein StruCture Analysis web SuiTe

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Iqbal , S , Hoksza , D , Perez-Palma , E , May , P , Jespersen , J B , Ahmed , S S , Rifat , Z T , Heyne , H O , Rahman , M S , Cottrell , J R , Wagner , F F , Daly , M J , Campbell , A J & Lal , D 2020 , ' MISCAST : MIssense variant to protein StruCture Analysis web SuiTe ' , Nucleic Acids Research , vol. 48 , no. W1 , pp. W132-W139 . https://doi.org/10.1093/nar/gkaa361

Title: MISCAST : MIssense variant to protein StruCture Analysis web SuiTe
Author: Iqbal, Sumaiya; Hoksza, David; Perez-Palma, Eduardo; May, Patrick; Jespersen, Jakob B.; Ahmed, Shehab S.; Rifat, Zaara T.; Heyne, Henrike O.; Rahman, M. Sohel; Cottrell, Jeffrey R.; Wagner, Florence F.; Daly, Mark J.; Campbell, Arthur J.; Lal, Dennis
Contributor organization: Institute for Molecular Medicine Finland
University of Helsinki
HUS Helsinki and Uusimaa Hospital District
Date: 2020-07-02
Language: eng
Number of pages: 8
Belongs to series: Nucleic Acids Research
ISSN: 0305-1048
DOI: https://doi.org/10.1093/nar/gkaa361
URI: http://hdl.handle.net/10138/319542
Abstract: Human genome sequencing efforts have greatly expanded, and a plethora of missense variants identified both in patients and in the general population is now publicly accessible. Interpretation of the molecular-level effect of missense variants, however, remains challenging and requires a particular investigation of amino acid substitutions in the context of protein structure and function. Answers to questions like 'Is a variant perturbing a site involved in key macromolecular interactions and/or cellular signaling?', or 'Is a variant changing an amino acid located at the protein core or part of a cluster of known pathogenic mutations in 3D?' are crucial. Motivated by these needs, we developed MISCAST (missense variant to protein structure analysis web suite; http://miscast.broadinstitute.org/). MISCAST is an interactive and user-friendly web server to visualize and analyze missense variants in protein sequence and structure space. Additionally, a comprehensive set of protein structural and functional features have been aggregated in MISCAST from multiple databases, and displayed on structures alongside the variants to provide users with the biological context of the variant location in an integrated platform. We further made the annotated data and protein structures readily downloadable from MISCAST to foster advanced offline analysis of missense variants by a wide biological community.
1182 Biochemistry, cell and molecular biology
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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