Mutations Position Table

APP 673 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A673T
None Alzheimer's Disease : Protective

This variant is associated with minimal amyloid deposition and is thought to protect against amyloid pathology.

Reduced the formation of amyloidogenic peptides by about 40 percent.

[MET1] g.269505G>A
[NT1] g.278201G>A
rs63750847
Coding
Exon 16
Point, Missense
GCA to ACA
0 Peacock 1993;
Jonsson 2012
A673V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Definite AD by CERAD criteria, with extensive deposition of β-amyloid and tau pathology (Braak stage VI). Cerebral amyloid angiopathy. Deposits contained high levels of Aβ40 and were noted to be unusually large, with few preamyloid deposits. Localization was frequently perivascular.

In vitro, A673V shifts APP processing toward the amyloidogenic pathway and increases the aggregation of Aβ40 and Aβ42; however, co-incubation of mutant and wild-type Aβ inhibits amyloidogenesis.


Coding
Exon 16
Point, Missense
GCA to GTA
0 Di Fede 2009