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 .
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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.
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
Database of human gene mutation data . Features publications, newly added genes, and locus specific databases.
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.
The p53 Web Site
Features current work, a mutations analysis, and anatomy of the gene. Provided by the Institut Curie.
RettBASE : MECP2
Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association.
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 .
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.
Last update:April 8, 2012 at 7:35:03 UTC