Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45991558 G>A
Position: (GRCh37/hg19):Chr17:44068924 G>A
dbSNP ID: rs1052551
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Silent
Codon Change: CCG to CCA
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 7

Findings

This variant is silent at the protein level and is thought to be benign. It was reported in a population-based study of individuals with frontotemporal dementia (FTD). Although 18 percent of the FTD cases screened carried the polymorphism, it was also present in healthy family members and/or in a series of healthy Dutch controls (Rizzu et al., 1999).

This variant since has been found in a number of other study populations. In a U.S. cohort it was found in both FTD patients and controls (Poorkaj et al., 2001), and it was present in one Polish patient with apparently sporadic FTD (Kowalska et al., 2001). In Australia, 14 percent of an FTD cohort carried the polymorphism. The number of control carriers was not reported in the study, but the variant was considered benign by the authors (Stanford et al., 2004).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

1. Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, Niermeijer MF, Hillebrand M, Ravid R, Oostra BA, Goedert M, van Duijn CM, Heutink P. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet. 1999 Feb;64(2):414-21. PubMed.
2. Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol. 2001 Mar;58(3):383-7. PubMed.
3. Kowalska A, Asada T, Arima K, Kumakiri C, Kozubski W, Takahashi K, Tabira T. Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4. Dement Geriatr Cogn Disord. 2001;12(6):387-92. PubMed.
4. Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM, Martins RN, Kwok JB, Schofield PR. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 2004 Sep;251(9):1098-104. PubMed.

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database