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Alzheimer Disease and Frontotemporal Dementia Mutation Database

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 The database contains mutations reported in the literature and at scientific meetings, and unpublished mutations directly submitted to the database.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.

URL: http://www.molgen.ua.ac.be/ADMutations/default.cfm?MT=1&ML=0&Page=ADMDB

Resource ID: nif-0000-23934     Resource Type: Resource     Version: Latest Version

Keywords

frontotemporal dementia, gene, alzheimers disease, genome, mrna, mutation, phenotype, :category:single nucleotide polymorphism

Synonyms

ADandFTDMDB, AD and FTD Mutation Database

Additional Resource Types

database

Related Disease

Alzheimer's disease, Frontotemporal dementia

Species

human

Supercategory

Resource

Parent Organization

Original Submitter

Anonymous

Version Status

Curated

Submitted On

12:00am April 19, 2011

Originated From

SciCrunch

Changes from Previous Version

First Version

Version 1

Created 4 years ago by Anonymous