Mutations

MAPT N296N

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.123776T>C
Genomic Mutation Name (NT1): g.120955T>C
dbSNP ID: rs63750912
Coding/Non-Coding: Coding
Genomic Region: Exon 4a
Mutation Type: Point, Silent
Codon Change: AAT to AAC

Findings

This silent mutation leads to a clinical syndrome similar to autosomal-dominant frontotemporal dementia with parkinsonism linked to chromosome 17.

Neuropathology

Abundant neuronal and glial tau protein deposits have been observed postmortem (Spillantini et al., 2000).

Biological Effect

This silent mutation increases the inclusion of exon 10 in tau mRNA and therefore increases the ratio of 4R/3R tau protein (Spillantini et al., 2000; Grover et al., 2002).

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References

Paper Citations

  1. . A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann Neurol. 2000 Dec;48(6):939-43. PubMed.
  2. . Effects on splicing and protein function of three mutations in codon N296 of tau in vitro. Neurosci Lett. 2002 Apr 19;323(1):33-6. PubMed.

Further Reading

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Primary Papers

  1. . A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann Neurol. 2000 Dec;48(6):939-43. PubMed.
  2. . Effects on splicing and protein function of three mutations in codon N296 of tau in vitro. Neurosci Lett. 2002 Apr 19;323(1):33-6. PubMed.

Other mutations at this position

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