Mutations

MAPT IVS10+29 G>A

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Overview

Pathogenicity: Alzheimer's Disease : Not Classified
Clinical Phenotype Studied: Alzheimer's Disease
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 polymorphism was initially identified in one of 117 controls and zero of 101 people affected by early onset Alzheimer's disease (Roks et al., 1999). It was later found in two of 72 AD patients and zero of 58 controls (Sala Frigerio et al., 2015). In the gnomAD variant database, it is reported at a global frequency of 0.0034, with the highest frequencies in Ashkenazi Jews and non-Finnish Europeans (v4.1.0, Apr 2024). This variant does not appear to alter the splicing of exon 10 (D'Souza et al., 1999), and its PHRED-scaled CADD score (1.24), which integrates diverse information in silico, was well below the commonly used threshold of 20 to predict deleteriousness (CADD v1.7, Apr 2024).

Last Updated: 28 Oct 2025

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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. Sala Frigerio C, Lau P, Troakes C, Deramecourt V, Gele P, Van Loo P, Voet T, De Strooper B. On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients. Alzheimers Dement. 2015 Nov;11(11):1265-76. Epub 2015 Apr 29 PubMed.
  3. 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.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. 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.
  2. 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.

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