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

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.