Mutations Position Table
PSEN1 S169 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| S169del (ΔS169, Ser169del, ΔS170) |
AD : Pathogenic | Deletion | Deletion | Deletion | Coding | Exon 6 | Unknown; MRI of the proband showed generalized cerebral atrophy with enlargement of the ventricles and widening of the sulci. |
Decreased Aβ42 and abrogation of Aβ40 production in vitro. No effect on Notch. |
Guo et al., 2010 |
| S169L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Neuropathology typical of AD, but also Aβ deposition in the cerebellum and white matter, as well as numerous ectopic neurons, often containing tau-immunopositive neurofibrillary tangles, in the white matter of the frontal and temporal lobes, possibly due to errant migration during development. |
Unknown, but cryo-EM analysis of the γ-secretase-complex revealed a direct interaction of the wild-type residue with APP. |
Taddei et al., 1998 |
| S169P |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Neuropathology consistent with AD, including numerous plaques and neurofibrillary tangles, neuritic irregularities, neuronal lipofuscin, and mild astrocytosis. |
Increased Aβ42 and moderately decreased Aβ40 production in vitro; increased Aβ42/Aβ40. |
Ezquerra et al., 1999 |
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