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.


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

Unknown.

Unknown.

rs63750053
Coding
Exon 7
Point, Missense
GGA to GAA
0 Rogaeva 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.

Unknown.

rs63749880
Coding
Exon 7
Point, Missense
GGA to AGA
0 Sugiyama 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.

Unknown.

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