Mutations Position Table
PSEN1 F177 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| F177S |
Alzheimer's Disease | AD : Pathogenic | Unknown, but in one carrier, PET revealed amyloid pathology in the cortex and widespread tau pathology and hypometabolism. MRI showed whole-brain atrophy. | Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cultured cells. | rs63749806 |
Coding | Exon 6 | Point, Missense TTT to TCT |
0 | Rogaeva et al., 2001 |
| F177L |
Alzheimer's Disease | AD : Pathogenic | Unknown | Increased Aβ42 production and Aβ42/Aβ40 ratio in vitro. Little impact on total cleavage activity of γ-secretase. | rs63749911 |
Coding | Exon 6 | Point, Missense TTT to CTT |
0 | Rogaeva et al., 2001 |
| F177V |
Alzheimer's Disease | AD : Pathogenic | Unknown, but MRI showed global brain atrophy, especially in the temporal region and hippocampus in one patient. | Increased Aβ42 and Aβ42/Aβ40 in transfected cells. | Coding | Exon 6 | Point, Missense TTT to GTT |
0 | Gao et al., 2019 |
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.