Mutations

MAPT S320Y

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Overview

Pathogenicity: : Not Classified
Transcript: NM_005910; ENST00000351559
Coding/Non-Coding: Coding
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 11

Findings

Limited information is available about this mutation. Its first report in the literature appears to be a review describing MAPT mutations (D'Souza et al., 2005). A subsequent paper suggested it may produce a phenotype similar to that of the pathogenic S320F mutation (Liu and Gong, 2008).

Neuropathology

Unknown.

Biological Effect

Unknown.

Research Models

A human MAPT knockin mouse model carrying this variant together with two pathogenic MAPT variants—S305N and IVS10+3 G>A—has been created (Morito et al., 2025; May 2025 news). The mouse had an elevated ratio of 4-repeat to 3-repeat tau and accumulated hyperphosphorylated tau in the hypothalamus and amygdala, in particular at the age of 6 months.

Last Updated: 29 Jul 2025

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References

Mutations Citations

  1. MAPT S305N
  2. MAPT IVS10+3 G>A
  3. MAPT S320F

News Citations

  1. Triple Trouble: New Knock-in Turbocharges Tauopathy

Paper Citations

  1. Morito T, Qi M, Kamano N, Sasaguri H, Bez S, Foiani M, Duff K, Benner S, Endo T, Hama H, Kurokawa H, Miyawaki A, Mizuma H, Sahara N, Shimojo M, Higuchi M, Saido TC, Watamura N. Human MAPT knockin mouse models of frontotemporal dementia for the neurodegenerative research community. Cell Rep Methods. 2025 Apr 21;5(4):101024. Epub 2025 Apr 11 PubMed.
  2. D'Souza I, Schellenberg GD. Regulation of tau isoform expression and dementia. Biochim Biophys Acta. 2005 Jan 3;1739(2-3):104-15. PubMed.
  3. 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

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