Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations can be submitted to AD&FTDMDB at this web site.
The AD&FTDMDB web site was launched in September 1999 as a locus-specific database of the HUGO Mutation Database Initiative, which has now evolved to the Human Genome Variation Society. In 2007, a link to the UCSC human genome browser was made in collaboration with PhenCode.
Nomenclature is as recommended by the Human Genome Variation Society. Because the mutations are often better known by other names, aliases are listed.