Mutations

APP E665D

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.269483G>C
Genomic Mutation Name (NT1): g.269483G>C
dbSNP ID: rs63750363
Coding/Non-Coding: Coding
Genomic Region: Exon 16
Mutation Type: Point, Missense
Codon Change: GAG to GAC

Findings

This variant was detected in a person with late-onset Alzheimer's disease (Peacock et al., 1994). However, it did not segregate with disease as it was also found in a cognitively healthy relative (who was older than 65).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. Ann Neurol. 1994 Apr;35(4):432-8. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. Ann Neurol. 1994 Apr;35(4):432-8. PubMed.