Mutations Position Table

PSEN1 G209 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G209A
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed global cortical atrophy and FDG-PET revealed widespread bilateral hypometabolism.

Unknown; predicted likely damaging in silico by PolyPhen2, SIFT, and Provean.


Coding
Exon 7
Point, Missense
GGA to GCA
0 An et al., 2016
G209E
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but MRI revealed global cerebral atrophy, particularly affecting the hippocampus. FDG-PET showed global hypometabolism, particularly affecting the temporal, parietal, and occipital lobes.

Unknown.

rs63750053
Coding
Exon 7
Point, Missense
GGA to GAA
0 Rogaeva et al., 2001
G209R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; imaging showed mild brain atrophy in the temporal lobes at early stages and diffuse brain atrophy predominantly in the frontotemporal lobes at advanced stages. Hypoperfusion in the frontotemporal areas at early stages extending to the parieto-occipital areas at advanced stages.

Abrogated Aβ40 production and drastically reduce Aβ42 production in vitro.

rs63749880
Coding
Exon 7
Point, Missense
GGA to AGA
0 Sugiyama et al., 1999
G209V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD, includin cortical atrophy, extensive amyloid plaques and neurofibrillary tangles, and amyloid angiopathy.

Abrogated Aβ40 production and drastically reduced Aβ42 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1.

rs63750053
Coding
Exon 7
Point, Missense
GGA to GTA
0 Poorkaj et al., 1998

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.