Mutations
MAPT L284R
Quick Links
Overview
Pathogenicity: Other Tauopathy : Pathogenic, Frontotemporal Dementia : Benign
Clinical
Phenotype: Progressive Supranuclear Palsy
Reference Assembly: GRCh37/hg19
Position: Chr17:44087704 T>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected RNA
Consequence: Substitution
Expected Protein
Consequence: Missense
Codon
Change: CTT to CGT
Reference
Isoform: Tau Isoform Tau-F (441 aa)
Genomic
Region: Exon 10
Findings
This mutation was identified in a Caucasian family from southern England. The family has an autosomal-dominant progressive supranuclear palsy syndrome characterized by early falls and a behavioral syndrome. Symptoms typically became apparent in the 40s, with an average disease duration of four to seven years (Rohrer et al., 2011).
Neuropathology
Unknown.
Biological Effect
Unknown.
Last Updated: 16 Feb 2023
References
Paper Citations
- Rohrer JD, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN. Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis. 2011;8(3):149-52. Epub 2010 Sep 14 PubMed.
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Rohrer JD, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN. Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis. 2011;8(3):149-52. Epub 2010 Sep 14 PubMed.
Other mutations at this position
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.
Comments
No Available Comments
Make a Comment
To make a comment you must login or register.