Mutations Position Table
PSEN1 T147 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| T147I |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown. |
Unknown; predicted probably damaging in silico. |
Campion et al., 1999 |
| T147P |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown; neuroimaging showed widespread cortical atrophy, as well as atrophy in the medial temporal lobes, with less severe cerebellar atrophy. |
In cells, decreased Aβ37/Aβ42 ratio, although Aβ42/Aβ40 was similar to controls. |
Testi et al., 2014 |
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