A locus-specific database aimed at collecting known mutations and non-pathogenic coding variations in the genes related to Alzheimer disease (AD) and frontotemporal dementia (FTD), following the guidelines of the Human Genome Variation Society. Mutations can be retrieved based on the gene, phenotype and publication.
The database contains mutations reported in the literature and at scientific meetings, and unpublished mutations directly submitted to the database. To date, AD&FTDMDB contains mutations in the genes encoding the Amyloid Beta Precursor Protein (APP), Presenilin 1 (PSEN1), Presenilin 2 (PSEN2), Chromatin Modifying Protein 2B (CHMP2B), fusion (involved in t(12;16) in malignant liposarcoma) (FUS), Granulin (GRN), Microtubule Associated Protein Tau (MAPT), TAR DNA binding protein (TARDBP) and Valosin-containing Protein (VCP) and holds 415 different mutations observed in 1027 patients or families.
As of March 2013, the latest publications referenced were from 2008, indicating that this resource may not be up to date.
Resource Type: Resource
Version: Latest Version
frontotemporal dementia, gene, alzheimers disease, genome, mrna, mutation, phenotype, :category:single nucleotide polymorphism
Alzheimer's disease, Frontotemporal dementia
ADandFTDMDB, AD and FTD Mutation Database
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Created 4 years ago by Anonymous