MutDB: annotating human variation with functionally relevant data.

Sean D Mooney; Russ B Altman

doi:10.1093/bioinformatics/btg241

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MutDB: annotating human variation with functionally relevant data.

Sean D Mooney·Russ B Altman

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Abstract

SUMMARY: We have developed a resource, MutDB (http://mutdb.org/), to aid in determining which single nucleotide polymorphisms (SNPs) are likely to alter the function of their associated protein product. MutDB contains protein structure annotations and comparative genomic annotations for 8000 disease-associated mutations and SNPs found in the UCSC Annotated Genome and the human RefSeq gene set. MutDB provides interactive mutation maps at the gene and protein levels, and allows for ranking of their predicted functional consequences based on conservation in multiple sequence alignments. AVAILABILITY: http://mutdb.org/ SUPPLEMENTARY INFORMATION: http://mutdb.org/about/about.html

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Database Management Systems Databases, Genetic Databases, Protein Documentation Genetic Predisposition to Disease Genetic Variation Genome, Human Humans Information Storage and Retrieval Mutation Phenotype Polymorphism, Single Nucleotide Proteins Sequence Alignment Sequence Analysis, Protein Structure-Activity Relationship Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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Sean D Mooney, Russ B Altman. 2003-09-22. MutDB: annotating human variation with functionally relevant data.. https://doi.org/10.1093/bioinformatics%2Fbtg241

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