Mutations Position Table
APP A673 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| A673T (Icelandic) |
None | Alzheimer's Disease : Protective | This variant is associated with minimal amyloid deposition and is thought to protect against amyloid pathology. |
Reduced production of amyloidogenic Aβ peptides by about 40 percent. The Aβ generated is less prone to aggregation. |
rs63750847 |
Coding Exon 16 |
Point, Missense GCA to ACA |
1 | Peacock et al., 1993; Jonsson et al., 2012 |
| A673V |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Definite AD by CERAD criteria, with extensive deposition of Aβ 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 β-secretase processing of APP toward the amyloidogenic pathway and increases Aβ aggregation; however, co-incubation of mutant and wild-type Aβ inhibits amyloidogenesis and toxicity. |
Coding Exon 16 |
Point, Missense GCA to GTA |
0 | Di Fede et al., 2009 |
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