Mutations

MAPT L284L

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.123740T>C
Genomic Mutation Name (NT1): g.120919T>C
dbSNP ID: rs63751423
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Point, Silent
Codon Change: CTT to CTC

Findings

Neuropathology

A variety of tau aggregates in both neurons and glial cells were observed. In addition, a substantial number of diffuse and neuritic Aβ plaques were observed although coincident AD could not be ruled out (D'Souza et al., 1999).

Biological Effect

The silent mutation L284L produces an increase in E10+ transcripts resulting in almost no E10− transcript. The mutation is thought to destroy an exon-splicing silencing element (D'Souza et al., 1999).

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References

Paper Citations

  1. . Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A. 1999 May 11;96(10):5598-603. PubMed.

Further Reading

Papers

  1. . Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol. 2001 Mar;58(3):383-7. PubMed.

Learn More

Primary Papers

  1. . Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A. 1999 May 11;96(10):5598-603. PubMed.

Other mutations at this position

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