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. The annotation of protein molecular function, involvement in human disease, as well as disease-associated variant positions, variant characterisation and their impact on protein structure and function will be outlined. Protein variant information will be presented in tabular view or in the feature viewer and shown how the feature viewer facilitates visualising the impact of variants on protein features and 3D structure. Cross-links to human-specific databases and other relevant resources will be briefly discussed. In addition, it will be demonstrated how to access and download human variation datasets available in UniProtKB.

We hope that this introduction will give you an understanding of how to access disease-related protein data in UniProtKB and how to make use of the different protein molecular data to analyse protein variant impact on protein function and structure.

Who is this course for?

This webinar is aimed at individuals who have an interest in human disease biology and wish to learn about how disease data is collected and annotated in UniProtKB. No prior knowledge of bioinformatics is required, but an undergraduate level knowledge of biology would be useful.

Outcomes

By the end of the webinar you will be able to:

• Navigate UniProtKB to find and discover information on proteins involved in human disease and disease-associated protein variants
• Find 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
• Access and download natural variant information/datasets 
• Describe how UniProtKB annotates disease data and the clinical significance of human variants

DOI: 10.6019/TOL.UniProtKB_variant23-w.2023.00001.1

This webinar took place on 10th February 2023. Please click the 'Watch video' button to view the recording.