Mutations Position Table

PSEN1 G378 Mutations

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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 secreted Aβ42; increased Aβ42/Aβ40 ratio.

[MET1] g.69047G>A
[NT1] g.85659G>A
rs63750323
Coding
Exon 11
Point, Missense
GGA to GAA
0 Besançon 1998
G378V
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.69047G>T
[NT1] g.85659G>T
rs63750323
Coding
Exon 11
Point, Missense
GGA to GTA
0 Janssen 2003