Membrane proteins play a vital role in many cellular functions, such as transporters, channels, receptors, cell signaling, and so on. Mutations in these proteins have diverse effects on structure and function and these effects result in causing various diseases such as cancers, neurodegenerative diseases, cystic fibrosis, diabetes and many others. MutHTP is a comprehensive database of human neutral and disease variants of membrane proteins. The data was collected from previously published databases namely Humsavar, SwissVar, ClinVar, COSMIC and 1000 Genomes. Currently we have 183395 disease variants in 4797 proteins and 17827 neutral variants in 3132 proteins.
MutHTP can be queried through the search options by giving UniProt ID, PDB ID, gene name, mutation, topology, disease name, disease class and database source. The information on the database includes neutral and the disease associated with the variant. We also classified the diseases into 14 categories based on KEGG Human Diseases. Users can check our tutorial to get help in searching the database. Fill the download form provided to download the entire dataset.
