Mutations Position Table

PSEN1 L392 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L392V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD, including cortical atrophy, amyloid plaques, and neurofibrillary tangles.

Increased Aβ42:Aβ40 ratio; increased Aβ42. The mutant protein also had impaired endoproteolysis and resulted in lower NICD production, suggesting reduced Notch cleavage by γ-secretase.

rs63751416
Coding
Exon 11
Point, Missense
CTG to GTG
0 Campion et al., 1995;
Campion et al., 1995;
Rogaev et al., 1995;
Campion et al., 1999
L392P
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750218
Coding
Exon 11
Point, Missense
CTG to CCG
0 Tedde et al., 2000;
Sorbi et al., 2002

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