Mutations

TREM2 VARIANTS ADDED

27 April 2018 More than 60 variants in TREM2 are now in the database. See the variants by searching TREM2 in the box below, or click on the interactive protein diagram.

This database is a repository of variants in genes linked to Alzheimer’s disease (AD). Currently, it includes the three genes associated with autosomal-dominant AD (APP, PSEN1, PSEN2) plus two genes associated with AD by way of genetics or the neuropathology of the encoded protein (TREM2 and MAPT). The goal is to provide a comprehensive list of rare variants in these genes, ranging from causative to benign, and to briefly describe any associated clinical and neuropathological features and reported functional effects, as reported in the literature. If you would like to suggest additional information, we welcome you to contact us at mutations@alzforum.org.

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Interactive Diagrams

APP

The APP gene encodes amyloid precursor protein, a transmembrane protein whose proteolysis gives rise to Aβ peptides. Mutations in APP are associated with Alzheimer's disease and Cerebral Amyloid Angiopathy.

MAPT

MAPT encodes the microtubule associated protein tau, a protein central to Alzheimer’s disease neuropathology. MAPT mutations are not linked to familial forms of AD, but can cause frontotemporal dementia (FTD) and several other tauopathies. The pathogenic mutations, which can be either exonic or intronic, generally alter the relative production of tau isoforms and lead to changes in microtubule assembly and/or the propensity of tau to aggregate.

PSEN1

PSEN1 encodes presenilin-1, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Over 180 mutations in PSEN1 have been reported and mutations in PSEN1 are the most common cause of early onset Alzheimer's disease.

PSEN2

The gene PSEN2 encodes presenilin-2, a subunit of γ-secretase, the aspartyl protease responsible for Aβ generation. Missense mutations in PSEN2 are a rare cause of early onset Alzheimer's disease.

TREM2

TREM2 encodes Triggering Receptor Expressed on Myeloid Cells 2, a transmembrane receptor that modulates microglial activity and survival. TREM2 variants cause Nasu-Hakola disease (NHD), a rare autosomal recessive early-onset dementia, and may modify the risk of developing Alzheimer’s disease (AD), frontotemporal dementia (FTD), Parkinson’s disease (PD), and amyotrophic lateral sclerosis (ALS).​

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