Mutations

MAPT T17M

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45962387 C>T
Position: (GRCh37/hg19):Chr17:44039753 C>T
dbSNP ID: rs144611688
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: ACG to ATG
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

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).

Last Updated: 18 Jul 2024

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References

Paper Citations

  1. Guerreiro RJ, Washecka N, Hardy J, Singleton A. 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

Protein Diagram

Primary Papers

  1. Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

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