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Nucleic Acids Res. 2008 Jan;36(Database issue):D815-9. Epub 2007 Sep 7.

MutDB: update on development of tools for the biochemical analysis of genetic variation.

Author information

  • 1Center for Computational Biology and Bioinfomatics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 410 W. 10th Street, Suite 5000, Indianapolis, IN 46202, USA.

Abstract

Understanding how genetic variation affects the molecular function of gene products is an emergent area of bioinformatic research. Here, we present updates to MutDB (http://www.mutdb.org), a tool aiming to aid bioinformatic studies by integrating publicly available databases of human genetic variation with molecular features and clinical phenotype data. MutDB, first developed in 2002, integrates annotated SNPs in dbSNP and amino acid substitutions in Swiss-Prot with protein structural information, links to scores that predict functional disruption and other useful annotations. Though these functional annotations are mainly focused on nonsynonymous SNPs, some information on other SNP types included in dbSNP is also provided. Additionally, we have developed a new functionality that facilitates KEGG pathway visualization of genes containing SNPs and a SNP query tool for visualizing and exporting sets of SNPs that share selected features based on certain filters.

PMID:
17827212
[PubMed - indexed for MEDLINE]
PMCID:
PMC2238958
Free PMC Article

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