Mutations

MAPT D285D

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45983659 C>T
Position: (GRCh37/hg19):Chr17:44061025 C>T
dbSNP ID: rs63750222
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: 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 the six major tau isoforms expressed in the human brain, but it is present in PNS-tau (P10636-1) and Tau-G (P10636-9), which are 758 and 776 amino acids long, respectively. Therefore, the position of this variant is in reference to these isoforms, rather than to isoform Tau-F (P10636-8). 

Neuropathology

Not applicable.

Biological Effect

Unknown.

Last Updated: 31 Dec 2012

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References

Paper Citations

  1. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998 Jun;43(6):815-25. PubMed.

External Citations

  1. P10636-1
  2. P10636-9
  3. P10636-8

Further Reading

Papers

  1. Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat. 2004 Oct;24(4):277-95. PubMed.
  2. 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.

Protein Diagram

Primary Papers

  1. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol. 1998 Jun;43(6):815-25. PubMed.

Other mutations at this position

View Table

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