Human Mutational Analysis web server

    The Human Mutation Analysis (HUMA) web server has been developed as a freely available platform for the analysis of genetic variation in humans. HUMA provides an extensive database, populated from a myriad of different sources, and incorporates a number of tools to analyse and visualize the data. The HUMA database is populated with genes, transcripts, exons, proteins and protein structures, diseases and variations. All data has been linked to allow advanced search functionality. For example, searching for a protein will provided all related data including the genes that code it, the known SNPs and other variations within it, the diseases associated with it, and all the experimentally determined PDB structures.

    The HUMA database has been created with the aim of analysing the effects on non-synonymous SNPs on protein stability and function. In order to do this, analysis tools needed to be incorporated into the web server. Firstly, a BLAST tool has been incorporated to allow users to search the HUMA database for homologous proteins. Secondly, a homology modelling pipeline has been included to allow users to model proteins with variations from the database included. In addition, tools, such as Polyphen 2.0 and nsSNPAnalyzer, that try to predict the effects of variations, will also be made available via the web interface.

    Collaboration features have been built into HUMA to facilitate the sharing of job results and analysis. HUMA also allows users to upload their own variation data to the server. These datasets are stored privately and users can choose to share them with other users and groups.
    Once launched, the HUMA web server will be freely available at

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