Mutations

MAPT T30A

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Coding/Non-Coding: Coding
Genomic Region: Exon 1
Mutation Type: Point, Missense
Codon Change: ACC to GCC

Findings

This polymorphism was identified in one individual from the Bantu Setswana population originating in South Africa (Guerreiro et al., 2010).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

Comments on this content

No Available Comments

Make a Comment

To make a comment you must login or register.

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.