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
G378V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Unknown.

rs63750323
Coding
Exon 11
Point, Missense
GGA to GTA
0 Janssen et al., 2003

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