Mutations Position Table

PSEN1 F237 Mutations

Tools

Back to the Top
Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
F237C
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown.

Unknown. Evolutionarily conserved codon across species and between human PSEN1 and PSEN2.

Lanoiselée et al., 2017
F237I
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown, but in proband, PET and SPECT revealed hypometabolism and hypoperfusion in bilateral temporoparietal areas, including primary and sensory motor cortices.

Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 ratio similar to wildtype. Decreased levels of Aβ43, Aβ42, Aβ40.

Sodeyama et al., 2001
F237L
AD : Pathogenic Substitution Substitution | Missense Coding Exon 7

Unknown, but in one carrier CSF AD biomarkers were consistent with AD.

Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 ratio similar to wildtype. Decreased levels of Aβ43, Aβ42, Aβ40.

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.