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 : Not Classified

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 : 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
Alzheimer's Disease : 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 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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