Mutations Position Table

APP A673 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
A673T
(Icelandic)
AD : Protective Substitution Substitution | Missense Coding Exon 16

This variant is associated with minimal amyloid deposition. In three carriers, biopsies showed no Aβ, phospho-tau, or p62 pathology. Low sAPPβ and Aβ42 in CSF.

Reduced production of amyloidogenic Aβ peptides. The Aβ generated is less prone to aggregation.

Peacock et al., 1993;
Jonsson et al., 2012
A673V
AD : Not Classified Substitution Substitution | Missense Coding Exon 16

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 may increase Aβ aggregation; however, co-incubation of mutant and wild-type Aβ inhibits amyloidogenesis and toxicity.

Di Fede et al., 2009

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