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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