Mutations Position Table
PSEN1 G378 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| G378E |
Alzheimer's Disease, Cerebral Amyloid Angiopathy | AD : Pathogenic | Neuropathology consistent with AD. One case also had notable cerebral amyloid angiopathy. | Increased Aβ42/Aβ40 ratio; increased Aβ42. | rs63750323 |
Coding | Exon 11 | Point, Missense GGA to GAA |
0 | Besançon et al., 1998 |
| G378fs |
Alzheimer's Disease | AD : Not Classified | 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. | Coding | Exon 11 | Insertion |
0 | El Kadmiri et al., 2014 | |
| G378R |
AD : Not Classified | 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. | Coding | Exon 11 | Point, Missense GGA to CGA |
0 | Ramos-Campoy et al., 2020 | ||
| G378V |
Alzheimer's Disease | AD : Pathogenic | 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. | rs63750323 |
Coding | Exon 11 | Point, Missense GGA to GTA |
0 | Janssen et al., 2003 |
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