Mutations Position Table

PSEN1 P267 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
P267S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with Alzheimer's disease.

Reduced γ-secretase activity; Increased cell cycle arrest.

rs63751229
Coding
Exon 8
Point, Missense
CCA to TCA
0 , 1995;
Hutton et al., 1996
P267L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

rs63750779
Coding
Exon 8
Point, Missense
CCA to CTA
0 Kowalska et al., 2003