Exploring human disease and protein variant data in UniProtKB

UniProt KnowledgeBase(UniProtKB) supports biomedical research by providing a comprehensive, high-quality, and freely accessible resource of protein sequence and functional information.

This webinar will provide an overview on how to access human disease and protein variant information available in UniProtKB.It 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. It will present the protein variant viewer and feature viewer and demonstrate how the feature viewer facilitates visualisation of variant impact on protein features and 3D structure. We will discuss the cross-links to human-specific databases and tools such as BLAST and Align. In addition, we will also demonstrate how to access and download human variation datasets available in UniProtKB.

By the end of this webinar, attendees will have a solid foundation in navigating UniProtKB to access disease-related protein data

This webinar is aimed at individuals who have an interest in human disease biology and wish to learn how to access human disease and protein variant data in UniProtKB.

• Navigate UniProtKB to find and discover information on proteins involved in human disease and disease-associated protein variants
• Know how to search for a specific disease or a protein variant
• Visualise how a disease variant may affect protein structure and/or function
• Identify links to external disease-related resources and how to access/download natural variant information/datasets
• Describe how UniProtKB annotates disease data and the clinical significance of human variants