Mutations

MAPT P270P

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.110058G>A
Genomic Mutation Name (NT1): g.107232G>A
dbSNP ID: rs11568305
Coding/Non-Coding: Coding
Genomic Region: Exon 9
Mutation Type: Point, Silent
Codon Change: CCG to CCA

Findings

This silent polymorphism was detected in healthy family members as well as at least one individual with frontotemporal dementia. It is not thought to be pathogenic (Rizzu et al., 1999).

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References

Paper Citations

  1. . High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet. 1999 Feb;64(2):414-21. PubMed.

Further Reading

Papers

  1. . Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol. 1999 Aug;46(2):243-8. PubMed.
  2. . Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol. 2001 Mar;58(3):383-7. PubMed.
  3. . TAU mutations are not a predominant cause of frontotemporal dementia in Canadian patients. Can J Neurol Sci. 2004 Aug;31(3):363-7. PubMed.
  4. . Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 2004 Sep;251(9):1098-104. PubMed.
  5. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

Learn More

Primary Papers

  1. . High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet. 1999 Feb;64(2):414-21. PubMed.