Mutations Position Table

APP A713 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A713T
Alzheimer's Disease, Cerebral Amyloid Angiopathy, None Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic

Variable: Generalized atrophy of the cerebral cortex; Widespread neurofibrillary tangles; Neuritic plaques; Variable cerebral amyloid angiopathy.

Unchanged Aβ42/Aβ40 ratio in postmortem brain.

rs63750066
Coding
Exon 17
Point, Missense
GCG to ACG
0 Carter et al., 1992;
Armstrong et al., 2004
A713V
None Alzheimer's Disease : Not Pathogenic

Not applicable.

Unknown.

rs1800557
Coding
Exon 17
Point, Missense
GCG to GTG
0 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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