Mutations Position Table

APP V715 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
V715A
(German)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Hypoperfusion in the parieto-occipital region.

Increased Aβ42/Aβ40 ratio.

[MET1] g.275336T>C
[NT1] .384032T>C
rs63750868
Coding
Exon 17
Point, Missense
GTG to GCG
0 Cruts 2003
V715M
(French)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Progressive cortical atrophy; hypometabolism.

Reduced total Aβ production, especially Aβ40; no change in Aβ42.

[MET1] g.275335G>A
[NT1] g.284031G>A
rs63750734
Coding
Exon 17
Point, Missense
GTG to ATG
0 Ancolio 1999

The reported mutations at codon 715 result in the replacement of the amino acid valine with either alanine or methionine. This amino acid position is not included within the Aβ40 or Aβ42 sequence, but these mutations have been shown to alter APP processing such that levels of these two peptides are altered. Specifically, both the V715M and the V715A mutations have been reported to increase the Aβ42/Aβ40 ratio.