Mutations Position Table

PSEN1 G209 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G209R
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44644G>A
[NT1] g.61250G>A
rs63749880
Coding
Exon 7
Point, Missense
GGA to AGA
0 Sugiyama 1999
G209E
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44645G>A
[NT1] g.61251G>A
rs63750053
Coding
Exon 7
Point, Missense
GGA to GAA
0 Rogaeva 2001
G209V
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.44645G>T
[NT1] g.61251G>T
rs63750053
Coding
Exon 7
Point, Missense
GGA to GTA
0 Poorkaj 1998