Mutations Position Table
PSEN1 F105 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| F105C |
Alzheimer's Disease | Alzheimer's Disease : Likely Pathogenic | Unknown; neuroimaging showed enlarged ventricles and atrophy in the hippocampus and frontotemporal regions. |
Unknown; predicted damaging in silico. |
Coding Exon 4 |
Point, Missense TTT to TGT |
0 | Jiao et al., 2014; Deng et al., 2014 |
|
| F105I |
Alzheimer's Disease | Alzheimer's Disease : Likely Pathogenic | Unknown. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. Also reduced total Aβ secretion. |
rs63750325 |
Coding Exon 4 |
Point, Missense TTT to ATT |
0 | Raux et al., 2005 |
| F105L |
Alzheimer's Disease | Alzheimer's Disease : Likely Pathogenic | Neuropathology consistent with AD, including numerous neurofibrillary tangles and senile plaques in the hippocampus with scattered plaques in the cortex. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It also reduced total Aβ secretion. |
rs63750321 |
Coding Exon 4 |
Point, Missense TTT to TTG |
0 | Finckh et al., 2000 |
| F105V |
Alzheimer's Disease | Alzheimer's Disease : Likely Pathogenic | Unknown. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It also reduced total Aβ secretion. |
Coding Exon 4 |
Point, Missense TTT to GTT |
0 | Gómez-Tortosa et al., 2010 |
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