Overview

Pathogenicity: Other Tauopathy : Pathogenic
Clinical Phenotype: Progressive Supranuclear Palsy
Position: (GRCh38/hg38):Chr17:46010338 T>G
Position: (GRCh37/hg19):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.

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References

Paper Citations

1. 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