Mutations

MAPT A41T

Overview

Pathogenicity: Parkinson's Disease : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease
Position: (GRCh38/hg38):Chr17:45962458 G>A
Position: (GRCh37/hg19):Chr17:44039824 G>A
dbSNP ID: rs115239819
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GCT to ACT
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

Findings

The A41T variant was detected in one out of 188 individuals with Parkinson’s disease (Schulte et al., 2015). In this case, information relating to family history was not available. This individual presented with resting tremor and also developed bradykinesia, rigor, postural instability, and cognitive impairment. The variant was absent in 188 individuals affected by PD with dementia and in 376 controls.

Neuropathology

Unknown.

Biological Effect

Unknown.

Last Updated: 18 Jul 2024

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.