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  1. PolyDoms (View Publication)
    Full Name of the Resource : Human coding SNPs mapped onto protein domains
    Resource Category : Databases -> Human Genes and Diseases -> General Polymorphism Databases

    Brief Description : PolyDoms is an integrated database of human coding SNPs and related data. Unlike other databases of similar nature, apart from integrating several cSNP and protein-related information resources, we predict the implications of the non-synonymous SNPs using two well known algorithms (SIFT and PolyPhen). All these results are presented in an intuitive visualization that depicts the cSNPs mapped onto protein domains and highlights those nsSNPs that are potentially damaging/deleterious or have been reported as disease allelic variants (based on OMIM). The query interface also supports searching for a list of proteins associated with any gene ontology term, pathway, disease term, or gene family. Results can also be downloaded as a spreadsheet. The visualization page also provides links to several other related sources and dynamic links to literature references. We strongly believe that the nsSNPs that are predicted to be functional upon evolutionary conservation analysis and are located in functional protein domains and/or motifs constitute an excellent resource for specific molecular studies to elucidate the direct consequences of these variations on protein function and interaction, which could also eventually help the molecular epidemiology and genetic studies aiming to reveal the genetic variationdisease risk association.

    Institute/s :
    Division of Biomedical Informatics, Cincinnati Children\'s Hospital Medical Center
    Department of Pediatrics, College of Medicine, 3Department of Biomedical Engineering, University of Cincinnati, Cincinnati, OH 45229, USA

    Country : United States

    Associated Institutes :

    • Division of Biomedical Informatics, Cincinnati Children\'s Hospital Medical Center Cincinnati, OH 45229, USA
    • Department of Pediatrics, College of Medicine Cincinnati, OH 45229, USA
    • Department of Biomedical Engineering, University of Cincinnati Cincinnati, OH 45229, USA

    Associated Country : USA


    Authors/Contributors : Aronow B.J.
    Contact Email : bruce.aronow@cchmc.org
    Year : 2007
    Language : English

    Keywords : *Databases, Nucleic Acid; *Genetic Predisposition to Disease; Genome, Human; Humans; Internet; Mutation; Phenotype; *Polymorphism, Single Nucleotide; Proteins / genetics; Systems Integration; User-Computer Interface