Mutations

MAPT P202L

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44060775 C>T
dbSNP ID: rs63750417
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CCG to CTG
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 4a

Findings

This variant in exon 4a of MAPT is thought to be benign. Originally described according to nucleotide position in exon 4a (232), it was associated with a haplotype more common in controls than Alzheimer's disease patients (Lilius et al., 1999). It occurs at a relatively high frequency (21 percent) in some populations (Stanford et al., 2004). Exon 4a is excluded from most tau isoforms, but is present in a large isoform known as PNS-tau, which is expressed primarily in the peripheral nervous system (Goedert et al., 1992; Georgieff et al., 1993). The position of this variant (202) is numbered according to amino acid position in PNS-tau rather than isoform 441 (Tau-F).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Tau gene polymorphisms and apolipoprotein E epsilon4 may interact to increase risk for Alzheimer's disease. Neurosci Lett. 1999 Dec 17;277(1):29-32. PubMed.
  2. . Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 2004 Sep;251(9):1098-104. PubMed.
  3. . 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.
  4. . 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. . Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4. Neuroreport. 2001 Apr 17;12(5):905-9. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . Tau gene polymorphisms and apolipoprotein E epsilon4 may interact to increase risk for Alzheimer's disease. Neurosci Lett. 1999 Dec 17;277(1):29-32. PubMed.

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