Mutations Position Table
APP V715 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V715M (French) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Progressive cortical atrophy; Hypometabolism. |
Decreased total Aβ; unchanged Aβ42; significantly decreased Aβ40. |
Ancolio et al., 1999 |
| V715A (German) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Hypoperfusion in the parieto-occipital region. |
Increased Aβ42/Aβ40 ratio in cells and in vitro. Also increased Aβ38/40 ratio, and inhibited production of AICD50–99. ε-cleavage sites, particularly T48, appear to be affected. |
Cruts et al., 2003 |
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.
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