Mutations

MAPT V300I

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44087751 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, 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).

Comments

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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.

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