Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE [<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. 30773680

2019

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648

2016

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349

2015

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism. 22169201

2012

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797

2011

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE Recently, we have generated transgenic mice (designated as SJLB) carrying human N279K mutant tau, one of the tau mutations causing parkinsonism linked to chromosome 17 (FTDP-17). 19898260

2009

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286

2007

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352

2007

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. 12492138

2002

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism. 10802785

2000