Mutations Position Table

APP V717 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
V717F
(Indiana)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Increased Aβ42/Aβ40 ratio.

[MET1] g.275341G>T
[NT1] g.284037G>T
rs63750264
Coding
Exon 17
Point, Missense
GTC to TTC
10 Murrell 1991
V717G
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in at least one case.

Increased Aβ42/Aβ40 ratio; increased Aβ42; decreased Aβ40.

[MET1] g.275342T>G
[NT1] g.284038T>G
rs63749964
Coding
Exon 17
Point, Missense
GTC to GGC
0 Chartier-Harlin 1991
V717I
(London)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Variable; some reports of mild amyloid angiopathy and cortical and brainstem Lewy bodies along with numerous plaques and tangles.

Increased Aβ42/Aβ40 ratio by increasing Aβ42 levels and decreasing Aβ40 levels.

[MET1] g.275341G>A
[NT1] g.284037G>A
rs63750264
Coding
Exon 17
Point, Missense
GTC to ATC
10 Goate 1991
V717L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI in the Japanese family showed relatively minor atrophic changes in the bilateral hippocampus and cerebral cortices.

Increased Aβ42/Aβ40 ratio; increased Aβ42; decreased Aβ40.

rs63750264
Coding
Exon 17
Point, Missense
GTC to CTC
0 Murrell 2000

There are four missense mutations reported for codon 717 of APP. Three of these were the first mutations in APP to be linked with early-onset Alzheimer's disease and were an important early demonstration of the significance of the APP gene to the development of AD. Specifically, in 1991 the V717I (Goate et al., 1991), V717F (Murrell et al., 1991) and V717G (Chartier Harlin et al., 1991) mutations were described for the first time. The amino acid corresponding to codon 717 is within the intramembrane region of APP near the γ-secretase site. Although this amino acid is not within the Aβ region, mutations at this position alter the relative levels of Aβ peptides, including increasing the Aβ42/Aβ40 ratio.