Overview

Pathogenicity: Parkinson's Disease : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease
Position: (GRCh38/hg38):Chr17:45990037 C>T
Position: (GRCh37/hg19):Chr17:44067403 C>T
dbSNP ID: rs200099007
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Nonsense
Codon Change: CGA to TGA
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 6

Findings

This variant was detected in one out of 188 people diagnosed with Parkinson’s disease (Schulte et al., 2015). This individual had apparently idiopathic PD with no family history of PD. Symptoms started with resting tremor, followed by bradykinesia, rigor, postural instability, and signs of dementia. This variant was absent in 188 cases diagnosed with PD with dementia, as well as in 376 cognitively healthy Caucasian controls.

Note that this variant is excluded from the six major tau isoforms expressed in the human brain, including Tau-F, the tau isoform that is conventionally used as the reference for naming MAPT mutations. Therefore, the position of this variant (448) is in reference to a longer isoform, PNS-Tau (P10636-1), which is 776 amino acids in length. 

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

1. Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. 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