Mutations

MAPT P301T

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37 (105)
Position: Chr17:44087754 C>A
dbSNP ID: rs63751438
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: CCG to ACG

Findings

This was the third mutation discovered at the 301 codon in MAPT. It was identified in a 57-year-old man with a two-year history of cognitive decline, gait disturbances, behavioral changes, apathy, speech difficulties, and falls. Four family members had similar symptoms, but genetic analysis was not possible and segregation could not be assessed (Lladó et al., 2007).

Neuropathology

MRI of the proband showed mild global atrophy that was more prominent in the frontal and temporal lobes (Lladó et al., 2007).

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel MAPT mutation (P301T) associated with familial frontotemporal dementia. Eur J Neurol. 2007 Aug;14(8):e9-10. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . A novel MAPT mutation (P301T) associated with familial frontotemporal dementia. Eur J Neurol. 2007 Aug;14(8):e9-10. PubMed.

Other mutations at this position

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