Mutations

MAPT T39T

Overview

Pathogenicity: Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: None
Reference Assembly: GRCh37 (105)
Position: Chr17:44039820 G>A
dbSNP ID: rs63750529
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Silent
Codon Change: ACG to ACA

Findings

This silent mutation was identified while screening MAPT in three sets of patient samples with non-Alzheimer's degenerative dementia. It was not found in 95 control individuals and was described as a "rare sequence variant" of unknown clinical significance (Houlden et al., 1999).

Neuropathology

Unknown.

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.

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.

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