Mutations Position Table

PSEN1 L173 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L173F (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI from two affected mutation carriers showed atrophy of the medial temporal lobe. SPECT showed hypoperfusion of the posterior cingulate gyri and other cortical areas.

N2a cells transfected with mutant PSEN1 secreted significantly more Aβ42 than cells expressing wild-type PSEN1. The Aβ42:Aβ40 ratio was also increased.


Coding
Exon 6
Point, Missense
TTG to TTC
0 Kasuga et al., 2009
L173F (G>T)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.


Coding
Exon 6
Point, Missense
TTG to TTT
0 Jin et al., 2012
L173W
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

rs63750299
Coding
Exon 6
Point, Missense
TTG to TGG
0 Campion et al., 1999

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