Mutations

APP T663M

Overview

Pathogenicity: Alzheimer's Disease : Not Pathogenic, Parkinson's Disease Dementia : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease Dementia
Reference Assembly: GRCh37 (105)
Position: Chr21:27269961 C>T
dbSNP ID: rs200260102
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: ACG to ATG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 16

Findings

This variant in APP was detected in one out of 188 individuals with Parkinson’s disease with dementia (Schulte et al., 2015). The individual presented with bradykinesia and dementia, and also developed rigor and postural instability but no resting tremor. Three aunts also had Parkinson’s disease, but further details were not reported. The variant was absent in 188 PD cases without dementia and 376 controls.

Neuropathology

Unknown.

Biological Effect

Unknown.

Comments

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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.

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