Mutations Position Table

PSEN1 S169 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
S169del
(ΔS169, Ser169del, ΔS170)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI of the proband showed generalized cerebral atrophy with enlargement of the ventricles and widening of the sulci.

Unknown.

[MET1] g.38804_38806delATC
[NT1] g.55409_55411delATC

Coding
Exon 6
Deletion
TCA.TCT to ---.TCT
0 Guo 2010
S169L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

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.

[MET1] g.38803C>T
[NT1] g.55408C>T
rs63751210
Coding
Exon 6
Point, Missense
TCA to TTA
0 Taddei 1998
S169P
Alzheimer's Disease, Myoclonic seizure Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD including numerous plaques and neurofibrillary tangles, neuritic irregularities, neuronal lipofuscin, and mild astrocytosis.

Unknown.

[MET1] g.38802T>C
[NT1] g.55407T>C
rs63750418
Coding
Exon 6
Point, Missense
TCA to CCA
0 Ezquerra 1999