10 April 2025
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...
Webinar
Virtual