Mutations

MAPT T17M

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genome Build: 105
Position: Chr17:44039753 C>T
dbSNP ID: rs144611688
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Missense
Codon Change: ACG to ATG

Findings

This variant was identified in one Nigerian individual from the Yoruba population.

Neuropathology

Not applicable.

Biological Effect

This varient results in an amino acid substitution in the N-terminal of the tau protein. In silico analysis predicted a possible effect on protein function, but the confidence of the prediction was low (Guerreiro et al., 2010).

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References

Paper Citations

  1. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

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