Mutations

MAPT T30A

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45962425 A>G
Position: (GRCh37/hg19):Chr17:44039791 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: ACC to GCC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

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.

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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