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.