Mutations Position Table

APP A713 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A713T
Cerebral Amyloid Angiopathy Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic

Variable; generalized atrophy of the cerebral cortex, widespread neurofibrillary tangles, neuritic plaques, variable cerebral amyloid angiopathy.

No change in the ratio of Aβ42/Aβ40 in postmortem brain.

[MET1] g.275329G>A
[NT1] g.284025G>A
rs63750066
Coding
Exon 17
Point, Missense
GCG to ACG
0 Carter 1992
A713V
None Alzheimer's Disease : Not Pathogenic

Not applicable.

Unknown.

[MET1] g.275330C>T
[NT1] g.284026C>T
rs1800557
Coding
Exon 17
Point, Missense
GCG to GTG
0 Jones 1992

At codon 713 of APP two rare variants have been described which result in a substitution of the alanine at this position. Only one of these variants, A713T, is thought to be pathogenic. A713V was originally described in a schizophrenic patient with cognitive decline, but subsequent studies ruled out an association of the variant 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 Aβ42 but not Aβ40.