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Bioinformatics Vol. 19 no. 14 2003
Pages 1858-1860
© 2003 Oxford University Press

Applications Note

MutDB: annotating human variation with functionally relevant data

Sean D. Mooney * and Russ B. Altman

Department of Genetics, Stanford Medical Informatics, Stanford University, 251 Campus Drive, MSOB X-215 Stanford, CA 94305-5479, USA

Received on September 24, 2002 ; revised on March 10, 2003 ; accepted on March 24, 2003

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

Contact: sdm{at}stanford.edu

* To whom correspondence should be addressed.


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