Mutations Position Table

APP 678 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
D678H
(Taiwanese)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; SPECT imaging showed hypoperfusion in the bilateral parietal cortices and the left temporal lobe.

Increased secreted Aβ40 and Aβ42. Increased Aβ42/Aβ40 ratio in conditioned media. When coincubated with Cu2+ and Zn2+, mutant Aβ exhibits increased metal ion binding and formation of ion-induced Aβ oligomers. Increased toxicity in vitro compared with wild-type Aβ42.


Coding
Point, Missense
GAC to CAC
0 Chen 2012
D678N
(Tottori)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Marked cortical atrophy, bilateral hippocampal atrophy, absence of focal cerebral infarction or hemorrhagic lesions.

Accelerated oligomerization kinetics and greater cytotoxicity than wild-type Aβ.

[MET1] g.269520G>A
[NT1] g.278218G>A
rs63750064
Coding
Exon 16
Point, Missense
GAC to AAC
0 Wakutani 2004