Mutations Position Table
PSEN1 Y154 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| Y154C |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Janssen et al., 2003 |
| Y154N |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown, MRI and SPECT showed atrophy and hypoperfusion in occipito-parietal areas and internal temporal lobe areas, including the hippocampus. |
Dramatically decreased Aβ40 and Aβ42 production, as well as decreased endopeptidase activity, in vitro. |
Hattori et al., 2004 |
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