Mutations

MAPT Y18Y

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr17:44039757 C>T
dbSNP ID: rs63750811
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Silent
Codon Change: TAC to TAT

Findings

This rare sequence variant was first reported in an analysis of the tau gene in a patient series. It was absent in the 95 controls tested (Houlden et al., 1999). It was later identified in one Chinese individual from the Oroqen population (Guerreiro et al., 2010).

Neuropathology

Not applicable.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol. 1999 Aug;46(2):243-8. PubMed.
  2. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary 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. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

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