Overview

Pathogenicity: Alzheimer's Disease : Not Classified
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:46010431 G>A
Position: (GRCh37/hg19):Chr17:44087797 G>A
dbSNP ID: rs63751443
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Codon Change: G to A
Genomic Region: Intron 10

Findings

This intronic variant in MAPT is thought to be a relatively rare polymorphism and does not appear to be associated with disease. In one study it was found in one out of 117 controls and zero out of 101 people affected by early onset Alzheimer's disease (Roks et al., 1999). It was later found in two out of 72 AD patients and zero out of 58 controls (Frigerio et al., 2015).

Neuropathology

Not applicable.

Biological Effect

This intronic point mutation does not appear to alter the splicing of exon 10 (D'Souza et al., 1999).

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References

Paper Citations

1. Roks G, Dermaut B, Heutink P, Julliams A, Backhovens H, Van de Broeck M, Serneels S, Hofman A, Van Broeckhoven C, van Duijn CM, Cruts M. Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neurosci Lett. 1999 Dec 24;277(2):137-9. PubMed.
2. D'Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM, Bird TD, Schellenberg GD. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A. 1999 May 11;96(10):5598-603. PubMed.

Other Citations

1. Frigerio et al., 2015

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database