Mutations

MAPT A90V

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr17:44051799 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, 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.

Comments

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References

Other Citations

  1. Sala Frigerio et al., 2015

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . 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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