Mutations

MAPT T17M

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Genomic Mutation Name (MET1): g.75792C>T
Genomic Mutation Name (NT1): g.72966C>T
dbSNP ID: rs144611688
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Missense
Codon Change: CGC to CTC

Findings

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

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.