VarSite: Disease variants and protein structure.
VarSite is a web server mapping known disease-associated variants from UniProt and ClinVar, together with natural variants from gnomAD, onto protein 3D structures in the Protein Data Bank. The analyses are primarily image-based and provide both an overview for each human protein, as well as a report for any specific variant of interest. The information can be useful in assessing whether a given variant might be pathogenic or benign. The structural annotations for each position in the protein include protein secondary structure, interactions with ligand, metal, DNA/RNA, or other protein, and various measures of a given variant's possible impact on the protein's function. The 3D locations of the disease-associated variants can be viewed interactively via the 3dmol.js JavaScript viewer, as well as in RasMol and PyMOL. Users can search for specific variants, or sets of variants, by providing the DNA coordinates of the base change(s) of interest. Additionally, various agglomerative analyses are given, such as the mapping of disease and natural variants onto specific Pfam or CATH domains. The server is freely accessible to all at: https://www.ebi.ac.uk/thornton-srv/databases/VarSite.
['Laskowski|Roman A|RA|0000-0001-5528-0087', 'Stephenson|James D|JD|', 'Sillitoe|Ian|I|', 'Orengo|Christine A|CA|', 'Thornton|Janet M|JM|']
D000067917:Cloud Computing D019295:Computational Biology D030541:Databases, Genetic D020022:Genetic Predisposition to Disease D014644:Genetic Variation D006801:Humans D008958:Models, Molecular D011487:Protein Conformation D011506:Proteins D014584:User-Computer Interface
VarSite disease variants UniProt ClinVar natural variants gnomAD Pfam CATH 3D protein structure PDB VarMap molecular interactions schematic diagrams