Overview

Pathogenicity: Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45962454 G>A
Position: (GRCh37/hg19):Chr17:44039820 G>A
dbSNP ID: rs63750529
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Silent
Codon Change: ACG to ACA
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

Findings

This silent mutation was identified while screening MAPT in three sets of patient samples with non-Alzheimer's degenerative dementia. It was not found in 95 control individuals and was described as a "rare sequence variant" of unknown clinical significance (Houlden et al., 1999).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

1. Houlden H, Baker M, Adamson J, Grover A, Waring S, Dickson D, Lynch T, Boeve B, Petersen RC, Pickering-Brown S, Owen F, Neary D, Craufurd D, Snowden J, Mann D, Hutton M. Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol. 1999 Aug;46(2):243-8. PubMed.

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database