Mutations Position Table
PSEN1 G378 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| G378E |
Alzheimer's Disease, Cerebral Amyloid Angiopathy | Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : 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 | Alzheimer's Disease : Unclear Pathogenicity | 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 GGA.GTA to GGG.AGT |
0 | El Kadmiri et al., 2014 | |
| G378V |
Alzheimer's Disease | Alzheimer's Disease : 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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