Mutations

APP A201V

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic
Clinical Phenotype: None, Parkinson's Disease Dementia
Reference Assembly: GRCh37 (105)
Position: Chr21:27423376 C>T
dbSNP ID: rs149995579
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCG to GTG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 5

Findings

This variant in APP was found in an exome sequencing study of 141 individuals with late-onset Alzheimer’s disease and 179 elderly controls without neuropathology at the time of their deaths. The variant was detected in one Caucasian control who was at least 60 years old at death. Further clinical details were not available. APOE genotype was ε3/ε4 (Sassi et al., 2014).

This variant was also detected in an individual with apparently idiopathic Parkinson’s disease with dementia (Schulte et al., 2015). This individual developed symptom onset at age 70, starting with bradykinesia and resting tremor. During an eight-year-disease duration, other symptoms included rigidity, postural instability, and dementia.

Neuropathology

Not applicable.

Biological Effect

Unknown. In silico, this variant is predicted to be "tolerated." It is classified as a benign polymorphism according to the algorithm proposed by Guerreiro et al., 2010 (Sassi et al., 2014).

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References

Paper Citations

  1. . Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. Epub 2014 Jun 16 PubMed.
  2. . Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.
  3. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. Epub 2014 Jun 16 PubMed.

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