Mutations

MAPT A239T

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37 (105)
Position: Chr17:44073923 G>A
dbSNP ID: rs63750096
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to ACC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 9

Findings

This variant was detected in a British individual with frontotemporal dementia who was affected by a rare tau-negative microvacuolar-type pathology. The variant was absent in more than 900 controls; however, lack of DNA from family members precluded segregation analysis (Pickering-Brown et al., 2002). A follow-up study showed that this individual also carried a deletion mutation in GRN (IVS10-16_Ex11+177del194 bp), which is associated with FTD pathogenicity. The MAPT variant therefore is thought to be a rare benign polymorphism present alongside the GRN deletion responsible for disease in this individual (Pickering-Brown et al., 2006).

Neuropathology

This varient was detected in an individual with a rare tau-negative microvacuolar-type neuropathology; however, the disease was attributed to a co-occuring GRN deletion mutation (Pickering-Brown et al., 2006).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain. 2002 Apr;125(Pt 4):732-51. PubMed.
  2. . Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain. 2006 Nov;129(Pt 11):3124-6. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain. 2002 Apr;125(Pt 4):732-51. PubMed.

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