Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Position: (GRCh38/hg38):Chr17:45996659 G>A
Position: (GRCh37/hg19):Chr17:44074025 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GGG to AGG
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 9

Findings

This mutation was identified in one out of 98 Belgian individuals dignosed with frontotemporal lobar degeneration. Age at onset in the mutation carrier was 63 years and the disease started with memory disturbances evolving into FTLD with parkinsonism. The G273R mutation was absent in 181 Belgian control individuals (van der Zee et al., 2006).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

1. van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain. 2006 Apr;129(Pt 4):841-52. Epub 2006 Feb 22 PubMed.

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database