Mutations Position Table
PSEN1 V89 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V89L (G>C) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Typical Alzheimer's disease pathology. |
Increased the Aβ42/Aβ40 ratio in vitro, and decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios in cells. |
Liu et al., 2017 |
| V89L (G>T) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Neurofibrillary tangles and neuritic plaques with dystrophic neurites corresponding to stage VI of Braak and Braak. Plaques abundant in the hippocampus, amygdala, and neocortex. Tangles abundant in the neocortex and hippocampus. Some amyloid angiopathy in cortical vessels. Moderate cortical atrophy and enlarged ventricles. |
Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio in vitro. |
Queralt et al., 2002 |
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