Mutations

MAPT K257T

Overview

Pathogenicity: Other Tauopathy : Pathogenic, Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: Tauopathy similar to Pick's Disease
Genomic Mutation Name (MET1): g.110018A>C
Genomic Mutation Name (NT1): g.107192A>C
dbSNP ID: rs63750129
Coding/Non-Coding: Coding
Genomic Region: Exon 9
Mutation Type: Point, Missense
Codon Change:

Findings

Neuropathology

Frontotemporal atrophy, especially in the temporal lobes. Numerous tau-positive Pick bodies in the the neocortex, hippocampus, and some subcortical regions that resembled those of sporadic Pick's disease. Diffuse hyperphosphorylated tau was observed in some cell bodies (Rizzini et al., 2000).

Biological Effect

Recombinant tau protein with the K257T mutation showed reduced ability to promote microtubule assembly (Rizzini et al., 2000).

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

Paper Citations

  1. . Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J Neuropathol Exp Neurol. 2000 Nov;59(11):990-1001. PubMed.

Further Reading

Learn More

Primary Papers

  1. . Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J Neuropathol Exp Neurol. 2000 Nov;59(11):990-1001. PubMed.
  2. . Pick's disease is associated with mutations in the tau gene. Ann Neurol. 2000 Dec;48(6):859-67. PubMed.