Mutations Position Table
PSEN1 E120 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| E120D (A>C) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD. |
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. In vitro, decreased Aβ42, and particularly Aβ40, production. |
Poorkaj et al., 1998 |
| E120D (A>T) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | 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. In vitro, decreased Aβ42, and particularly Aβ40, production.
|
Reznik-Wolf et al., 1996 |
| E120G |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Frequent amyloid plaques and neurofibrillary tangles; Severe amyloid angiopathy. |
Decreased Aβ38 and Aβ40 production and Aβ38/Aβ42 ratio in patient brain sample. Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. Total Aβ secretion reduced in cells. |
Lladó et al., 2009; Gómez-Tortosa et al., 2010 |
| E120K |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD. |
Increased Aβ42/40 ratio in cells and in vitro. In cells, also increased Aβ42/Aβ total ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios. In vitro, reduced Aβ40 and Aβ42 production. Cell data suggest reduced γ-processivity. |
Hutton et al., 1996 |
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