Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45993948 C>G
Position: (GRCh37/hg19):Chr17:44071314 C>G
dbSNP ID: rs768343783
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CCA to CGA
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 8

Findings

This variant was detected in one out of 376 control cases from the KORA-Age cohort, based in Germany (Schulte et al., 2015). Limited information is available on this person, but according to a description of the cohort as a whole, all individuals were Caucasian and cognitively healthy at age 65 or older (Schulte et al., 2012).

Note that this variant is excluded from the six major tau isoforms expressed in the human brain, including Tau-F, the isoform most commonly used as a reference. Exon 8 is included in longer tau isoforms PNS-Tau and Tau-G. The amino acid numbering of this variant (511) is thus according to the amino acid position in these longer isoforms.

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References

Paper Citations

1. Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.
2. Schulte EC, Mollenhauer B, Zimprich A, Bereznai B, Lichtner P, Haubenberger D, Pirker W, Brücke T, Molnar MJ, Peters A, Gieger C, Trenkwalder C, Winkelmann J. Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics. 2012 Aug;13(3):281-5. Epub 2012 Jun 16 PubMed.

Further Reading

No Available Further Reading