Mutations

MAPT V289A

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr17:44061036 T>C
dbSNP ID: rs62063787
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GTA to GCA
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 4a

Findings

This variant in exon 4a may be a relatively common polymorphism. It was detected in 22 percent of 95 controls (Poorkaj et al., 1998). Exon 4a is excluded from most tau isoforms, but is present in a large isoform known as PNS-tau that is expressed primarily in the peripheral nervous system (Goedert et al., 1992; Georgieff et al., 1993). The position of this variant (289) is numbered according to amino acid position in PNS-tau rather than in isoform 441 (TauF).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998 Jun;43(6):815-25. PubMed.
  2. . Cloning of a big tau microtubule-associated protein characteristic of the peripheral nervous system. Proc Natl Acad Sci U S A. 1992 Mar 1;89(5):1983-7. PubMed.
  3. . Expression of high molecular weight tau in the central and peripheral nervous systems. J Cell Sci. 1993 Jul;105 ( Pt 3):729-37. PubMed.

External Citations

  1. PNS-tau

Further Reading

Papers

  1. . Mutational analysis of the tau gene in progressive supranuclear palsy. Neurology. 1999 Oct 22;53(7):1421-4. PubMed.
  2. . An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy. Neurology. 2000 Nov 14;55(9):1364-7. PubMed.
  3. . Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4. Neuroreport. 2001 Apr 17;12(5):905-9. PubMed.
  4. . Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 2004 Sep;251(9):1098-104. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998 Jun;43(6):815-25. PubMed.

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