Mutations


This database contains information about mutations in genes linked to autosomal-dominant Alzheimer’s disease as well as mutations in MAPT (tau). The goal is to provide a comprehensive list of rare variants in these genes, causative as well as benign, and to briefly describe the associated clinical and neuropathological features and reported functional effects. If you would like to suggest additional information, we welcome you to contact us at mutations@alzforum.org.

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APP Document Search

APP encodes amyloid precursor protein, a transmembrane protein which is cleaved to form amyloidogenic Aβ peptides. Mutations in APP are associated with familial forms of early onset Alzheimer's disease as well as with Cerebral Amyloid Angiopathy (CAA).

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PSEN1 Document Search

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.

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PSEN2 Document Search

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.

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MAPT Document Search

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.

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Further Reading

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