Mutations

MAPT S320Y

Overview

Pathogenicity: Other Tauopathy : Not Classified
Clinical Phenotype: Tauopathy consistent with Pick's Disease
Coding/Non-Coding: Coding
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 11

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.

Last Updated: 23 Apr 2024

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References

Paper Citations

  1. D'Souza I, Schellenberg GD. Regulation of tau isoform expression and dementia. Biochim Biophys Acta. 2005 Jan 3;1739(2-3):104-15. PubMed.
  2. Liu F, Gong CX. Tau exon 10 alternative splicing and tauopathies. Mol Neurodegener. 2008 Jul 10;3:8. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Other mutations at this position

View Table

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