Mutations Position Table
PSEN1 F386 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| F386L |
Alzheimer's Disease | AD : Pathogenic | Unknown. |
Unknown, but predicted to be pathogenic by multiple in silico analyses. |
rs1555358095 |
Coding | Exon 11 | Point, Missense TTC to TTA |
0 | Yagi et al., 2014 |
| F386S |
Alzheimer's Disease | AD : Pathogenic | Unknown |
Decreased Aβ37/Aβ42 ratio and dramatically increased Aβ43 in cells. Increased Aβ42/Aβ40 ratio in 3 assays. |
rs63749860 |
Coding | Exon 11 | Point, Missense TTC to TCC |
0 | Raux et al., 2005 |
| F386I |
Alzheimer's Disease | AD : Pathogenic | Unknown; MRI showed atrophy of hippocampus. |
Increased Aβ42/Aβ40 and Aβ43; decreased Aβ37/Aβ42 in cells. |
Coding | Exon 11 | Point, Missense TTC to ATC |
0 | Shea et al., 2017 |
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.