Mutations

MAPT V300I

Overview

Pathogenicity: Frontotemporal Dementia : Uncertain Significance
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:46010385 G>A
Position: (GRCh37/hg19):Chr17:44087751 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GTC to ATC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 10

Findings

This rare variant was found in a genetic screen of 282 control samples from the human genome diversity panel (Guerreiro et al., 2010). It was identified in one Mozabite individual from North Africa. This individual also carried a rare variant in the progranulin gene (R19W).

Neuropathology

Not applicable.

Biological Effect

Unknown. Predicted in silico to be benign and well-tolerated by PolyPhen and SIFT (Guerreiro et al., 2010).

Last Updated: 18 Jul 2024

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

Alzpedia

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.