Mutations Position Table

PSEN1 F177 Mutations

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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 [MET1] g.38826T>C
[NT1] g.55431T>C
rs63749911
Coding
Exon 6
Point, Missense
TTT to CTT
0 Rogaeva 2001
F177S
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.38827T>C
[NT1] g.55432T>C
rs63749806
Coding
Exon 6
Point, Missense
TTT to TCT
0 Rogaeva 2001