Mutations

MAPT A178T

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44068928 G>A
dbSNP ID: rs63750612
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCT to ACT
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 7

Findings

This rare variant was reported in an individual with autopsy-confirmed frontotemporal dementia. However, it was absent in the proband’s affected brother, and therefore does not appear to segregate with disease in this family. It is thought to be a rare benign variant (Houlden et al., 1999).

Neuropathology

Although it was reported in an individual with autopsy-confirmed FTD, the A178T variant is thought to be benign.

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

Protein Diagram

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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