Mutations Position Table
PSEN1 F105 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F105L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Neuropathology consistent with AD in three individuals. |
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. |
Finckh et al., 2000 |
| F105C |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown; neuroimaging showed enlarged ventricles and atrophy in the hippocampus and frontotemporal regions. |
Decreased Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Jiao et al., 2014; Deng et al., 2014 |
| F105I |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | 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. |
Raux et al., 2005 |
| F105V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | 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. |
Gómez-Tortosa et al., 2010 |
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