Mutations

APP G709S

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic, Parkinson's Disease Dementia : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease Dementia
Reference Assembly: GRCh37 (105)
Position: Chr21:27264120 G>A
dbSNP ID: rs201269325
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GGT to AGT
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 17

Findings

This variant was detected in one out of 188 individuals with Parkinson’s disease with dementia (Schulte et al., 2015). This individual presented with resting tremor, and also developed bradykinesia, rigor, postural instability, and dementia. An uncle also had PD. The variant was absent in 188 PD cases without dementia and 376 controls.

Neuropathology

Unknown.

Biological Effect

Unknown.

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. . Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.

Alzpedia

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.