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Home / Science / Biology / Genetics / Eukaryotic / Animal / Mammal / Human / Databases and Maps / Mutation
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Web Sites
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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.
www.uta.fi/imt/bioinfo/ADAbase
- ADSLdb - Provide up-to-date information about genetic variation of the adenylosuccinate lyase gene. Includes cDNA sequence and gene structure.
www.icp.ucl.ac.be/adsldb
- 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 .
www.albumin.org
- Andogen Receptor Gene - A searchable mutations database. Includes a table and map of interacting proteins and links to related resources.
www.mcgill.ca/androgendb
- 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.
www.bioc.aecom.yu.edu/bgmut/index.htm
- 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 .
life2.tau.ac.il/GeneDis
- GM2A Mutation Database - A searchable database of mutations on the GM2A gene causing AB variant GM2 Gangliosidosis.
data.mch.mcgill.ca/gm2adb
- HEXB Mutation Database - A searchable database of mutations on the HEXB gene causing Sandhoff Disease.
data.mch.mcgill.ca/hexbdb
- Institute of Medical Genetics in Cardiff - Database of human gene mutation data . Features publications, newly added genes, and locus specific databases.
www.uwcm.ac.uk/uwcm/mg/hgmd0.html
- RettBASE : MECP2 - Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association.
mecp2.chw.edu.au
- 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.
archive.uwcm.ac.uk/uwcm/mg/hgmd0.html
- The p53 Web Site - Features current work, a mutations analysis, and anatomy of the gene . Provided by the Institut Curie .
p53.curie.fr
- 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 .
www.sesep.uvsq.fr/Database.html
- Universal Mutation Database - Provides access to disease or gene specific and locus specific databases, and multi-genes and core databases.
www.umd.necker.fr
- 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.
www.x-ald.nl
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