Mutations Position Table
APP A713 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A713T |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 17 | Variable: Generalized atrophy of the cerebral cortex; Widespread neurofibrillary tangles; Neuritic plaques; Variable cerebral amyloid angiopathy. |
In vitro, increased long forms of Aβ (Aβ45 and Aβ46); decreased short forms. Increased Aβ42/Aβ40 ratio due to decreased Aβ40 secretion in cells. In vitro, promoted aggregation. |
Carter et al., 1992; Armstrong et al., 2004 |
| A713V |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 17 | Not applicable. |
Decreased Aβ42 and Aβ40 secretion in cells; no effect on Aβ42/Aβ40 ratio. |
Jones et al., 1992 |
Two rare variants have been described at codon 713 of APP that result in the substitution of the alanine. Only one of these variants, A713T, is thought to be pathogenic. A713V was originally described in a patient with schizophrenia who experienced cognitive decline, but subsequent studies did not support an association with schizophrenia or cognitive decline. The 713 codon is notable in that the amino acid at this position is adjacent to the γ-secretase cleavage site and is included in the Aβ42 peptide but not Aβ40.
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