Mutations Position Table

PSEN1 W165 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
W165C (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

rs63751484
Coding
Exon 6
Point, Missense
TGG to TGC
0 Campion et al., 1999
W165C (G>T)
(W161C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, MRI showed diffuse cerebral and cerebellar atrophy in one case.

Unknown, but in silico analyses (SIFT and polyphen) predict the mutation is deleterious, probably damaging.


Coding
Exon 6
Point, Missense
TGG to TGT
0 Syama et al., 2018
W165G
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; but SPECT showed slight decrease in blood flow to parieto-occipital regions and thalamus in one case. Also, EEG alterations, but normal MRI.

In vitro, increased Aβ42 and Aβ42/Aβ40 ratio; reduced Aβ40.

rs63751010
Coding
Exon 6
Point, Missense
TGG to GGG
0 Higuchi et al., 2000

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