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 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.