Mutations

MAPT S320Y

Overview

Pathogenicity: Other Tauopathy : Pathogenic
Clinical Phenotype: Tauopathy consistent with Pick's Disease
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Missense

Findings

Limited information is available about this mutation, but it is mentioned in reviews describing MAPT mutations (D'Souza et al., 2005; Liu et al., 2008).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Regulation of tau isoform expression and dementia. Biochim Biophys Acta. 2005 Jan 3;1739(2-3):104-15. PubMed.
  2. . Tau exon 10 alternative splicing and tauopathies. Mol Neurodegener. 2008 Jul 10;3:8. PubMed.

Further Reading

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