Mutations Position Table

PSEN1 F386 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Coding/Non-Coding Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
F386I
Alzheimer's Disease AD : Pathogenic Unknown; MRI showed atrophy of hippocampus.
 
Increased Aβ42/Aβ40 and Aβ43; decreased Aβ37/Aβ42 in cells.

Coding Exon 11 Point, Missense
TTC to ATC
0 Shea et al., 2017
F386L
Alzheimer's Disease AD : Pathogenic Unknown. Unknown, but predicted to be pathogenic by multiple in silico analyses.

rs1555358095
Coding Exon 11 Point, Missense
TTC to TTA
0 Yagi et al., 2014
F386S
Alzheimer's Disease AD : Pathogenic Unknown Decreased Aβ37/Aβ42 ratio and dramatically increased Aβ43 in cells. Increased Aβ42/Aβ40 ratio in 3 assays.

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

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