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 : Not Classified | 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 |
Alzheimer's Disease, Spastic Paraparesis | Alzheimer's Disease : Not Classified | 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 : Likely Pathogenic | Unknown |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
rs63750858 |
Coding Exon 7 |
Point, Missense TTT to CTT |
0 | Janssen et al., 2003 |
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