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.

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 .

A searchable mutations database. Includes a table and map of interacting proteins and links to related resources.

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.

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 .

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.

Searchable database of known and novel MECP2 disease-causing mutations and polymorphisms. From the International Rett Syndrome Association.

Features current work, a mutations analysis, and anatomy of the gene . Provided by the Institut Curie .

Provide information about genetic variation of the alpl gene responsible for hypophosphatasia. Includes a downloadable list of genotypes and mutations .

Catalogue and facilitate the analysis of X-ALD mutations and provide background information. Includes the structure of the ABCD1 gene and its gene sequence.