Mutations Position Table

PSEN1 P117 Mutations

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/Aβ total ratio.


Coding
Exon 5
Point, Missense
CCA to GCA
0 Anheim et al., 2007
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.

rs63749805
Coding
Exon 5
Point, Missense
CCA to CTA
1 Wisniewski et al., 1998
P117Q
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but CSF biomarkers (Aβ42, tau, and phospho-tau) were in the AD pathological range in one case.

Unknown


Coding
Exon 5
Point, Missense
CCA to CAA
0 Lanoiselée et al., 2017
P117R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

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

rs63749805
Coding
Exon 5
Point, Missense
CCA to CGA
0 Zekanowski et al., 2003
P117S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

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

Unchanged total Aβ; Increased relative secretion of Aβ42 by N2a cells and skin fibroblasts from a mutation carrier; Reduced neurite outgrowth in N2a cells compared to cells expressing wild-type PSEN1.

rs63750550
Coding
Exon 5
Point, Missense
CCA to TCA
0 Dowjat et al., 2004
T116S; P117T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in biopsies from two individuals. 

Unknown. In silico predictions mixed: deleterious (PolyPhen2, SIFT, PROVEAN); uncertain significance (Mutation Taster 2); medium effect (Mutation Assessor); T116S neutral and P117T pathogenic (PredictSNP).


Coding
Exon 5
Insertion/Deletion
ACC CCA to TCT ACA
0 Blanco et al., 2019

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.