Mutations Position Table
PSEN1 F175 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| F175del |
Myoclonic seizure, Alzheimer's Disease | Alzheimer's Disease : Pathogenic | 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. |
Coding Exon 6 |
Deletion TTC to --- |
0 | Vöglein et al., 2019 | |
| F175S |
Late-onset | Alzheimer's Disease : Unclear Pathogenicity | Unknown |
Unknown |
rs63750771 |
Coding Exon 6 |
Point, Missense TTC to TCC |
0 | Colacicco et al., 2002 |
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