Recorded webinar

Exploring Human Disease and Protein Variant Data in UniProtKB and Contextualising Variation with ProtVar

UniProt KnowledgeBase (UniProtKB) supports biomedical research by providing a comprehensive, high-quality, and freely accessible resource of protein sequence and functional information. During this webinar, we will provide an overview of how to access the human disease and protein variant information available in UniProtKB, as well as contextualising protein variation with protein structure and function using ProtVar. We will outline the annotation of protein molecular function, involvement in human disease, as well as disease-associated variants, including variant position, variant characterisation and their impact on protein structure and function. The protein variant viewer and feature viewer will be presented and we will show how the feature viewer facilitates visualisation of variant co-localisation and impact on protein features and 3D structure. Cross-links to human-specific databases and tools such as BLAST and Align will be briefly discussed. We will give an overview of ProtVar , a tool that combines data from UniProt, PDBe, Ensembl and novel predictions for the interpretation of missense variation in humans. ProtVar helps users contextualise and interpret human missense variation within proteins to identify the potential effects of variation concerning human health and disease. We will briefly introduce programmatic access to the UniProt Proteins API and ProtVar API and  give examples on how to download human variation datasets available in UniProtKB.Finally, we will take live questions from the audience. The UniProt APIs are available at: https://www.uniprot.org/help/programmatic_accessThe ProtVar API is available at:https://www.ebi.ac.uk/ProtVar/api/swagger-ui/index.html

Resource type: Recorded webinar


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