Mutations

APP I716V (Florida)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27264099 A>G
dbSNP ID: rs63750399
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: ATC to GTC
Research Models: 4

Findings

This mutation was first reported in an American patient diagnosed with probable Alzheimer's disease. She had a family history of dementia with a mean age of onset of about 53 years (Eckman et al., 1997).

Neuropathology

MRI of the patient showed diffuse cortical atrophy, most prominant in the left anterior temporal lobe (Eckman et al., 1997).

Biological Effect

When expressed in HEK293 or CHO cells, this mutation caused an approximately twofold increase in Aβ42(43) and a significant increase in the Aβ42(43)/Aβ40 ratio (Eckman et al., 1997). Similar increases in Aβ42 and in the ratio of Aβ42(43)/Aβ40 were seen in primary mouse neurons (De Jonghe et al., 2001).

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References

Paper Citations

  1. . A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Hum Mol Genet. 1997 Nov;6(12):2087-9. PubMed.
  2. . Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Hum Mol Genet. 2001 Aug 1;10(16):1665-71. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Hum Mol Genet. 1997 Nov;6(12):2087-9. PubMed.

Other mutations at this position

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