Mutations

MAPT S447P

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44067400 T>C
dbSNP ID: rs10445337
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: TCC to CCC
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 6

Findings

This variant has been reported in controls and is thought to be benign (Poorkaj et al., 1998). The polymorphism resides in exon 6, which is excluded from the major tau isoforms expressed in the human brain. Exon 6 is included in PNS-tau, a long isoform of tau with 758 amino acids. The numerical position of this variant (447) corresponds to its position in this isoform. In the literature this variant has also been referred to as S53P or Ser53Pro (e.g., Poorkaj et al., 1998).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Last Updated: 24 Nov 2013

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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. PNS-tau

Further Reading

Papers

  1. Crawford F, Freeman M, Town T, Fallin D, Gold M, Duara R, Mullan M. No genetic association between polymorphisms in the Tau gene and Alzheimer's disease in clinic or population based samples. Neurosci Lett. 1999 May 14;266(3):193-6. PubMed.
  2. Ingelson M, Fabre SF, Lilius L, Andersen C, Viitanen M, Almkvist O, Wahlund LO, Lannfelt L. Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4. Neuroreport. 2001 Apr 17;12(5):905-9. PubMed.
  3. 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.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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.

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