| Directory > Science > Biology > Genetics > Eukaryotic > Animal > Mammal > Human > Databases and Maps > Mutation MutDB
Public initiative to annotate genomic variants with data that assists in functional annotation.
Offers tools to help determine which mutations are the most likely to be the underlying causative
agents of disease.
http://mutdb.org/
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RettBASE : MECP2
Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the
International Rett Syndrome Association.
http://mecp2.chw.edu.au/
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Andogen Receptor Gene
A searchable mutations database. Includes a table and map of interacting proteins and links to
related resources.
http://www.mcgill.ca/androgendb/
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Institute of Medical Genetics in Cardiff
Database of human gene mutation data . Features publications, newly added genes, and locus specific
databases.
http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html
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The p53 Web Site
Features current work, a mutations analysis, and anatomy of the gene . Provided by the Institut
Curie .
http://p53.curie.fr/
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Albumin
Contains a list of published albumin mutations with references, accession numbers for nucleotide
sequences, the list of registered cases of analbuminemia with references, plus news items of
general interest .
http://www.albumin.org/
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ADSLdb
Provide up-to-date information about genetic variation of the adenylosuccinate lyase gene. Includes
cDNA sequence and gene structure.
http://www.icp.ucl.ac.be/adsldb/
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GeneDis
Features the primary sequences of genes and proteins involved in human genetic diseases. The
mutation table shows the location of the mutation on the cDNA, genomic DNA and protein sequence,
and the number of exon or intron .
http://life2.tau.ac.il/GeneDis/
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ADAbase: Mutation registry for Adenosine Deaminase Deficiency
Features an introduction, submissions, publications, and an immunodeficiency resource. Includes a
gene atlas for the ADA gene.
http://www.uta.fi/imt/bioinfo/ADAbase/
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Blood Group Antigen Gene Mutation Database
Deals with mutations in loci of allelic genes that specify the common blood group antigens and the
allelic variants of those common genes. Includes an introduction, contributors, and resources.
http://www.bioc.aecom.yu.edu/bgmut/index.htm
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The Human Gene Mutation Database (HGMD)
Collate known gene lesions responsible for human inherited disease. Includes publications, newly
added genes, electronic submission facilities, and related resources.
http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html
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X-linked Adrenoleukodystrophy Database
Catalogue and facilitate the analysis of X-ALD mutations and provide background information.
Includes the structure of the ABCD1 gene and its gene sequence.
http://www.x-ald.nl/
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The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database
Provide information about genetic variation of the alpl gene responsible for hypophosphatasia.
Includes a downloadable list of genotypes and mutations .
http://www.sesep.uvsq.fr/Database.html
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