Mutations

MAPT H441Y

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr17:44067382 C>T
dbSNP ID: rs2258689
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CAC to TAC
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 6

Findings

This variant has been reported in healthy 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 position of this mutation is numbered according to its position in this isoform. In the literature this variant has also been referred to as H47Y or His47Tyr (e.g., Poorkaj et al., 1998) and also as Y441H (e.g., Uniprot P10636) because both alleles are fairly common, and both have been reported as the ancestral allele in the published record.

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.

External Citations

  1. Uniprot P10636

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. . 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.
  3. . 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.

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