Mutations

MAPT A90V

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr17:45974433 C>T
Position: (GRCh37/hg19):Chr17:44051799 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GCC to GTC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 3

Findings

This variant was detected in an individual with apparently sporadic AD (Sala Frigerio et al., 2015). There was no family history of dementia. Other than a diagnosis of AD, clinical details related to this individual were not reported.

Neuropathology

Unknown.

Biological Effect

The pathogenicity of this variant is unclear; it may be simply a rare polymorphism. PolyPhen-2 predicts that it is benign in silico.

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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