Mutations Position Table

PSEN1 S169 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
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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.

Increased Aβ42/40 ratio and decreased Aβ37/40 ratio in cells.

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 Aβ42/40 ratio and decreased Aβ37/40 ratio in cells.

Ezquerra et al., 1999
S169del
(S170del, ΔS169, 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.

Aβ42/Aβ40 ratio increased; Aβ37/42 ratio decreased. 

Guo et al., 2010

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