Mutations Position Table

PSEN1 G217 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
G217R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Cotton wool plaques.

[MET1] g.44668G>C
[NT1] g.61274G>C

Coding
Exon 7
Point, Missense
GGT to CGT
0 Norton 2009
G217D
Alzheimer's Disease, Parkinsonism Alzheimer's Disease : Pathogenic

Cotton wool plaques.

[MET1] g.44669G>A
[NT1] g.61275G>A
rs63750444
Coding
Exon 7
Point, Missense
GGT to GAT
0 Miravalle 2002;
Takao 2002