Mutations Position Table
PSEN1 W165 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| W165C (G>C) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown |
Increased Aβ42/40 ratio and decreased Aβ37/40 ratio in cells. |
Campion et al., 1999 |
| W165C (G>T) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown, MRI showed diffuse cerebral and cerebellar atrophy in one case. |
Increased the Aβ42/40 ratio and decreased the Aβ37/40 ratio in cells. |
Syama et al., 2018 |
| W165G |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown; but SPECT showed slight decrease in blood flow to parieto-occipital regions and thalamus in one case. Also, EEG alterations, but normal MRI. |
Increased Aβ42/40 ratio and decreased Aβ37/40 ratio in cells. |
Higuchi et al., 2000 |
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