Mutations

MAPT R448*

Overview

Pathogenicity: Parkinson's Disease : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease
Reference Assembly: GRCh37/hg19
Position: Chr17:44067403 C>T
dbSNP ID: rs200099007
Coding/Non-Coding: Coding
Mutation Type: Point, Nonsense
Codon Change: CGA to TGA
Reference Isoform: Tau Isoform Tau-G (776 aa)
Genomic Region: Exon 8

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 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, Tau-G (P10636-9, NP_001116538), which is 776 amino acids in length.

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.

External Citations

  1. P10636-9
  2. NP_001116538

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.