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Bioinformatics. 2003 Sep 22;19(14):1858-60.

MutDB: annotating human variation with functionally relevant data.

Author information

1
Department of Genetics, Stanford Medical Informatics, Stanford University, 251 Campus Drive, MSOB X-215 Stanford, CA 94305-5479, USA. sdm@stanford.edu

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

PMID:
14512363
[Indexed for MEDLINE]
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