Mutations

MAPT I260V

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.110026A>G
Genomic Mutation Name (NT1): g.107200A>G
dbSNP ID: rs63751249
Coding/Non-Coding: Coding
Genomic Region: Exon 9
Mutation Type: Point, Missense
Codon Change: ATC to GTC

Findings

I260V was the fourth mutation identified in the first microtubule-binding domain of tau (encoded by exon 9) to be associated with frontotemporal dementia. The previously reported mutations were K257T, L266V, and G272V.

Neuropathology

Unlike the previous mutations in exon 9, I260V is associated with deposition of four-repeat (4R) tau and has a pathological phenotype that lacks Pick body-like lesions (Grover et al., 2003). Neurofibrillary tangles also were not observed. Sarkosyl-insoluble tau extracted from affected brain tissue consisted almost exclusively of 4R isoforms.

Biological Effect

In vitro biochemical assays demonstrated that I260V causes a selective increase in 4R tau aggregation (Grover et al., 2003).

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References

Mutations Citations

  1. MAPT K257T
  2. MAPT L266V
  3. MAPT G272V

Paper Citations

  1. . A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy. Exp Neurol. 2003 Nov;184(1):131-40. PubMed.

Further Reading

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Primary Papers

  1. . A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy. Exp Neurol. 2003 Nov;184(1):131-40. PubMed.