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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