Mutations Position Table

PSEN1 Y154 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Y154N
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Pathogenic

Unknown, MRI and SPECT showed atrophy and hypoperfusion in occipito-parietal areas and internal temporal lobe areas, including the hippocampus.

Dramatically decreased Aβ40 and Aβ42 production, as well as decreased endopeptidase activity, in vitro.

rs63750588
Coding
Exon 5
Point, Missense
TAT to AAT
0 Hattori et al., 2004
Y154C
Alzheimer's Disease Alzheimer's Disease : Not Classified

Unknown

Unknown, but multiple in silico algorithms predicted a damaging effect.

rs63751292
Coding
Exon 5
Point, Missense
TAT to TGT
0 Janssen 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.