Mutations Position Table
PSEN1 F175 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F175S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown |
No effect on Aβ42 or Aβ40 production in cultured cells. Multiple in silico algorithms yielded conflicting results. |
Colacicco et al., 2002 |
| F175del |
AD : Not Classified | Deletion | Deletion | Deletion | Coding | Exon 6 | Unknown, but MRI and FDG-PET observations, as well as CSF biomarkers, were consistent with AD. |
Increased Aβ42 and Aβ39; decreased Aβ40 in cultured cells. |
Vöglein et al., 2019 |
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