Directory of Mutation Resources

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This category is for listing genetic mutation databases. The term is generally used to refer to changes in DNA sequence which are not present in most individuals of a species and either have been associated with disease or have resulted from damage inflicted by external agents .

Resources in This Category

• ADAbase: Mutation registry for Adenosine Deaminase Deficiency

  http://www.uta.fi/imt/bioinfo/ADAbase/
  Features an introduction, submissions, publications, and an immunodeficiency resource. Includes a gene atlas for the ADA gene.

• ADSLdb

  http://www.icp.ucl.ac.be/adsldb/
  Provide up-to-date information about genetic variation of the adenylosuccinate lyase gene. Includes cDNA sequence and gene structure.

• Institute of Medical Genetics in Cardiff

  http://www.hgmd.cf.ac.uk/ac/index.php
  Database of human gene mutation data . Features publications, newly added genes, and locus specific databases.

• MutDB

  http://mutdb.org/
  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.

• RettBASE : MECP2

  http://mecp2.chw.edu.au/
  Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association.

• The p53 Web Site

  http://p53.free.fr/
  Features current work, a mutations analysis, and anatomy of the gene. Provided by the Institut Curie.

• The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database

  http://www.sesep.uvsq.fr/Database.html
  Provide information about genetic variation of the alpl gene responsible for hypophosphatasia. Includes a downloadable list of genotypes and mutations .

• X-linked Adrenoleukodystrophy Database

  http://www.x-ald.nl/
  Catalogue and facilitate the analysis of X-ALD mutations and provide background information. Includes the structure of the ABCD1 gene and its gene sequence.

Related Categories

• Home > Health > Conditions and Diseases > Genetic Disorders

 

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