Mutations Position Table

APP 678 Mutations

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 Aβ42/Aβ40 ratio in conditioned media; increased secreted Aβ42 and Aβ40. 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
Exon 16
Point, Missense
GAC to CAC
0 Chen et al., 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.

rs63750064
Coding
Exon 16
Point, Missense
GAC to AAC
0 Wakutani et al., 2004

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