Mutations Position Table

PSEN1 F177 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
F177L
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

Increased Aβ42 production and Aβ42/Aβ40 ratio in vitro. Little impact on total cleavage activity of γ-secretase.

rs63749911
Coding
Exon 6
Point, Missense
TTT to CTT
0 Rogaeva et al., 2001
F177S
Alzheimer's Disease Alzheimer's Disease : Likely Pathogenic

Neuropathology consistent with AD.

Unknown, but cryo-EM studies and in silico algorithms (CADD > 20) suggest a damaging effect. 

rs63749806
Coding
Exon 6
Point, Missense
TTT to TCT
0 Rogaeva et al., 2001
F177V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but MRI showed global brain atrophy, especially in the temporal region and hippocampus in one patient.

Increased Aβ42 and Aβ42/Aβ40 in transfected cells.


Coding
Exon 6
Point, Missense
TTT to GTT
0 Gao et al., 2019

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