Mutations

APP E682K (Leuven)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27269905 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 16
Mutation Type: Point, Missense
Codon Change: GAA to AAA

Findings

This mutation was identified in a single patient in Leuven, Belgium. In her late 40s the patient developed symptoms of depression, followed by progressive cognitive decline (Zhou et al., 2011).

Neuropathology

MRI revealed bilateral hippocampal volume loss in the patient. Cortical PiB uptake was also observed.

Biological Effect

This mutation at the β' site in APP shifts BACE1 cleavage toward the β-site and causes a significant increase in total Aβ and in Aβ42/40 levels.

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References

Paper Citations

  1. . Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation. EMBO Mol Med. 2011 May;3(5):291-302. Epub 2011 Apr 15 PubMed.

Further Reading

Papers

  1. . Molecular genetics of Alzheimer's disease: an update. Ann Med. 2008;40(8):562-83. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation. EMBO Mol Med. 2011 May;3(5):291-302. Epub 2011 Apr 15 PubMed.

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