Mutations Position Table
PSEN1 G378 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| G378fs |
AD : Not Classified | Insertion | Insertion | Frame Shift | Coding | Exon 11 | Unknown; MRI showed hippocampal and parahippocampal atrophy. |
The insertion of one nucleotide in exon 11 is predicted to cause a frameshift. In cells, Aβ40 and Aβ42 production decreased and Aβ42/Aβ40 ratio increased. |
El Kadmiri et al., 2014 |
| G378E |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Neuropathology consistent with AD. One case also had notable cerebral amyloid angiopathy. |
Increased Aβ42/Aβ40 ratio; increased Aβ42. |
Besançon et al., 1998 |
| G378V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Neuropathology consistent with AD. |
Decreased Aβ42 and abrogation of Aβ40 production in vitro. Predicted to have a damaging effect by SIFT, Polyphen, and Mutation Taster. |
Janssen et al., 2003 |
| G378R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown, but MRI of one patient showed fronto-temporo-parietal atrophy and CSF biomarkers consistent with AD. |
Unknown, but predicted deleterious in silico and two other pathogenic mutations in same residue. |
Ramos-Campoy et al., 2020 |
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