Mutations Position Table
PSEN1 F237 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| F237C |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Unknown. Evolutionarily conserved codon across species and between human PSEN1 and PSEN2. |
Coding Exon 7 |
Point, Missense TTT to TGT |
0 | Lanoiselée et al., 2017 | |
| F237I |
Spastic Paraparesis, Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown, but in proband, PET and SPECT revealed hypometabolism and hypoperfusion in bilateral temporoparietal areas, including primary and sensory motor cortices. |
Decreased production of Aβ42 and Aβ40 in vitro, but Aβ42/Aβ40 ratio similar to wild-type. |
rs63750858 |
Coding Exon 7 |
Point, Missense TTT to ATT |
0 | Sodeyama et al., 2001 |
| F237L |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Unknown |
rs63750858 |
Coding Exon 7 |
Point, Missense TTT to CTT |
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.