Mutations Position Table
PSEN1 L113 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L113P |
AD : Pathogenic, FTD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | AD-like plaques and tangles; CT scans showed predominant frontotemporal atrophy and SPECT showed hypoperfusion including the frontal lobes. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It also reduced total Aβ secretion. |
Raux et al., 2000 |
| L113Q |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | Neuritic plaques (Braak stage C); Neurofibrillary tangles (stage VI); Severe amyloid angiopathy. |
Decreased Aβ40 production in vitro; increased Aβ42/Aβ40 ratio.
|
Finckh et al., 2005 |
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