Mutations Position Table

PSEN1 Y154 Mutations

Tools

Back to the Top
Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
Y154C
AD : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown

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

Janssen et al., 2003
Y154N
AD : Pathogenic Substitution Substitution | Missense Coding Exon 5

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.

Hattori et al., 2004

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.