Mutations Position Table

APP T714 Mutations

Tools

Back to the Top
Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
T714A
(Iranian)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Progressive cortical atrophy; white matter lesions.

Unknown.

[MET1] g.275332A>G
[NT1] g.284028A>G
rs63750643
Coding
Exon 17
Point, Missense
ACA to GCA
0 Pasalar 2002
T714I
(Austrian)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Extensive neuronal loss; diffuse gliosis; neurofibrillary tangles; amyloid plaques including diffuse "cloudy" plaques.

Increased Aβ42/Aβ40 ratio (about 11-fold); increased Aβ42, decreased Aβ40.

[MET1] g.275333C>T
[NT1] g.284029C>T
rs63750973
Coding
Exon 17
Point, Missense
ACA to ATA
0 Kumar-Singh 2000

The two pathogenic mutations at codon 714 are located at a primary site of γ-secretase cleavage and sit just outside the C-terminal of the Aβ sequence. Like other mutations in this region of APP, they are thought to alter APP processing such that more Aβ42 is produced. The clinical picture for these two mutations differs, especially with respect to average age of onset. The T714I mutation appears to cause a more aggressive form of the disease than the T714A mutation with an earlier age of onset and more rapid progression.