Mutations Position Table

APP D678 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
D678H
(Taiwanese)
AD : Pathogenic Substitution Substitution | Missense Coding Exon 16

Unknown; amyloid-PET showed an initial increase followed by a decrease in amyloid burden;  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. Increased nucleation of Aβ aggregates/oligomers. Increased toxicity in vitro compared with wild-type Aβ42.

Chen et al., 2012
D678N
(Tottori)
AD : Pathogenic Substitution Substitution | Missense Coding Exon 16

Marked cortical atrophy, bilateral hippocampal atrophy, absence of focal cerebral infarction or hemorrhagic lesions in heterozygous carrier; small lacunar lesions in temporoparietal cortex and subcortical white matter in homozygous carrier.

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

Wakutani et al., 2004

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