Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44087751 G>A
dbSNP ID: NA
Mutation Type: Point, Missense
Codon Change: GTC to ATC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 10
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).
Unknown. Predicted in silico to be benign and well-tolerated by PolyPhen and SIFT (Guerreiro et al., 2010).
- Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. 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.
No Available Further Reading
- Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.
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