Mutations

MAPT D285D

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr17:44061025 C>T
dbSNP ID: rs63750222
Coding/Non-Coding: Coding
Mutation Type: Point, Silent
Codon Change: GAC to GAT
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 4a

Findings

This variant in exon 4a may be relatively common. It was detected in 15 percent of 92 controls screened (Poorkaj et al., 1998). Exon4a 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 numbering of the variant (285) is according to amino acid position in this isoform.

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. . The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat. 2004 Oct;24(4):277-95. PubMed.
  2. . 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.

Other mutations at this position

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