Mutations

APP V717G

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.275342T>G
Genomic Mutation Name (NT1): g.284038T>G
dbSNP ID: rs63749964
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: GTC to GGC

Findings

This mutation was reported in a three-generation family. As described, the "F19" pedigree had 10 affected individuals who met the NINCDS-ADRDA criteria for probable AD. The diagnosis was confirmed by autopsy in at least one family member. The average age of onset in this family was 59 ± 4 years (Chartier-Harlin et al., 1991). Additional screening of the APP gene in this family did not reveal any additional sequence abnormalities, supporting the pathogenicity of V717G  (Fidani et al., 1992).

Neuropathology

Neuropathology consistent with AD was seen at autopsy in at least one mutation carrier (Chartier-Harlin et al., 1991).

Biological Effect

This mutation increases the Aβ42/Aβ40 ratio by increasing Aβ42 and decreasing Aβ40 (Tamaoka et al., 1994).

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

Paper Citations

  1. . Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature. 1991 Oct 31;353(6347):844-6. PubMed.
  2. . Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile. Hum Mol Genet. 1992 Jun;1(3):165-8. PubMed.
  3. . APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain. J Biol Chem. 1994 Dec 30;269(52):32721-4. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature. 1991 Oct 31;353(6347):844-6. PubMed.

Other mutations at this position

View Table