Mutations Position Table
APP D678 Mutations
| 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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