Mutations Position Table

PSEN1 P117 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
P117A
Alzheimer's Disease, Ataxia Alzheimer's Disease : Pathogenic

Unknown.

Increased Aβ42/Aβtotal ratio. No change in total Aβ levels.

[MET1] g.25552C>G
[NT1] g.42106C>G

Coding
Exon 5
Point, Missense
CCA to GCA
0 Anheim 2007
P117S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with a diagnosis of AD according to CERAD criteria. Neuronal loss estimated to be greater than 70% in one brain; extensive loss of white matter; active gliosis throughout the brain; Lewy bodies.

Increased relative secretion of Aβ42 by N2a cells and skin fibroblasts from a mutation carrier. No change in total Aβ levels. Reduced neurite outgrowth in N2a cells compared to cells expressing wild-type PSEN1.

[MET1] g.25552C>T
[NT1] g.42106C>T
rs63750550
Coding
Exon 5
Point, Missense
CCA to TCA
0 Dowjat 2004
P117R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Increased Aβ40 and Aβ42; increased Aβ42/Aβ40 ratio. Affects on cell cycle in immortalized patient lymphocytes.

[MET1] g.25553C>G
[NT1] g.42107C>G
rs63749805
Coding
Exon 5
Point, Missense
CCA to CGA
0 Zekanowski 2003
P117L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD. Unusually high amyloid burden, especially in the molecular layer of the cerebellum and in cerebellar vessels.

In vitro, mutant PSEN1 increases Aβ42, inhibits neurite outgrowth and neurofilament assembly, increases cell cycle arrest, and decreases neuronal differentiation of progenitor cells.

[MET1] g.25553C>T
[NT1] g.42107C>T
rs63749805
Coding
Exon 5
Point, Missense
CCA to CTA
1 Wisniewski 1998