Mutations Position Table

PSEN1 F386 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
F386I
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed atrophy of hippocampus.

 

Unknown; predicted damaging in silico.


Coding
Exon 11
Point, Missense
TTC to ATC
0 Shea et al., 2017
F386L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown, but predicted to be pathogenic by in silico analyses (SIFT and PolyPhen2).

rs1555358095
Coding
Exon 11
Point, Missense
TTC to TCA
0 Yagi et al., 2014
F386S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

Increased Aβ42/Aβ40 ratio in cells and in vitro. In vitro assays indicated reduced production of both Aβ40 and Aβ42; cell-based assays showed increased secretion of both peptides.

rs63749860
Coding
Exon 11
Point, Missense
TTC to TCC
0 Raux et al., 2005

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