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

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