Mutations

MAPT P4T

Overview

Pathogenicity: Alzheimer's Disease : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45962347 C>A
Position: (GRCh37/hg19):Chr17:44039713 C>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CCC to ACC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

Findings

This variant was detected in a control individual in a study assessing 72 AD cases and 58 controls (Sala Frigerio et al., 2015). The age of the mutation carrier was not reported, nor were details regarding his or her cognitive health. Classification as a control was based on a lack of significant AD pathology in the brain.

Neuropathology

Not applicable.

Biological Effect

Unknown. In silico, the P4T variant was predicted to be probably damaging by PolyPhen2.

Last Updated: 18 Jul 2024

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References

Other Citations

  1. Sala Frigerio et al., 2015

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. 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 Apr 29; PubMed.

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