Mutations

APP L723P (Australian)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.275360T>C
Genomic Mutation Name (NT1): g.284056T>C
dbSNP ID: rs63751122
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: CTG to CCG

Findings

This mutation was first identified in an Australian pedigree of three generations with clinical features consistent with early onset Alzheimer's disease. The mean age of onset in this family was 56 years (Kwok et al., 2000).

Neuropathology

Unknown.

Biological Effect

In CHO cells this mutation was found to produce elevated Aβ42 (1.4- to 1.9-fold) (Kwok et al., 2000).

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References

Paper Citations

  1. . Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis. Ann Neurol. 2000 Feb;47(2):249-53. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis. Ann Neurol. 2000 Feb;47(2):249-53. PubMed.