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.

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).

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

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.