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 identified in a patient with late-onset Alzheimer's disease, but did not segregate with disease as it was also found in the proband's cognitively healthy relative (who was older than 65) (Peacock et al., 1994).

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.