Mutations

APP A713V

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr21:27264107 C>T
dbSNP ID: rs1800557
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: GCG to GTG

Findings

This variant was originally described in an individual with schizophrenia and cognitive deficits (Jones et al., 1992), raising the possibility of pathogenicity. Subsequent studies did not support a pathogenic role for this variant in either schizophrenia or Alzheimer's disease (Mant et al., 1992; Forsell et al., 1995).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

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References

Paper Citations

  1. . Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia. Nat Genet. 1992 Jul;1(4):306-9. PubMed.
  2. . Schizophrenia scepticism. Nat Genet. 1992 Sep;2(1):12. PubMed.
  3. . Amyloid precursor protein mutation at codon 713 (Ala-->Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent). Neurosci Lett. 1995 Jan 23;184(2):90-3. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia. Nat Genet. 1992 Jul;1(4):306-9. PubMed.

Other mutations at this position

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