Mutations

MAPT S352L

Overview

Pathogenicity: Other Tauopathy : Pathogenic
Clinical Phenotype: Other Tauopathy
Genomic Mutation Name (MET1): g.132085C>T
Genomic Mutation Name (NT1): g.129265C>T
dbSNP ID: rs63750425
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: TCG to TTG

Findings

This mutation was identified in an English family referred to as the Yorkshire kindred. It was found in a pair of siblings with aggressive early onset hereditary tauopathy that presented with acute respiratory failure. The parents were unaffected (at least at time of assessment) despite carrying the S352L mutation. The disease is thought to have a recessive mode of inheritance, but may also be a dominant disorder with reduced penetrance (Nicholl et al., 2003).

Neuropathology

Extensive tau neuropathology (Nicholl et al., 2003).

Biological Effect

Recombinant S352L tau exhibited reduced microtubule binding  and accelerated filament formation (Nicholl et al., 2003).

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References

Paper Citations

  1. . An English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol. 2003 Nov;54(5):682-6. PubMed.

Further Reading

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Primary Papers

  1. . An English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol. 2003 Nov;54(5):682-6. PubMed.