Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation BEFREE Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding. 15695522

2005
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation. 16219306

2005
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Significantly, the reduction in mitochondrial complex V levels in the P301L tau mice revealed using proteomics was also confirmed as decreased in human P301L FTDP-17 (frontotemporal dementia with parkinsonism linked to chromosome 17) brains. 15831501

2005
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Transgenic mice expressing the FTDP-17 mutation P301L of tau recapitulate key features of the human pathology, that is, tau proteins aggregate and neurofibrillary tangles begin to appear in the amygdala at 6 months of age. 15056457

2004
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Neurofibrillary pathology was produced in the brains of adult rats after localized gene transfer of human tau carrying the P301L mutation, which is associated with frontotemporal dementia with parkinsonism. 14695347

2004
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier. 15489396

2004
dbSNP: rs63750756
rs63750756
MAPT
G 0.900 CausalMutation CLINVAR A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. 14568818

2003
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 12509859

2003
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. 14517953

2003
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Twenty-six patients with FTD (9 with tau mutations 7 P301L and 2 G272V), 18 patients with Alzheimer disease (AD), and 13 nondemented controls. 12975285

2003
dbSNP: rs63751438
rs63751438
MAPT
0.900 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). 12473774

2002
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Early-onset, rapidly progressive familial tauopathy with R406W mutation. 11889249

2002
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Functional effects of tau gene mutations deltaN296 and N296H. 11906000

2002
dbSNP: rs63750756
rs63750756
MAPT
0.900 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
MAPT
0.900 GeneticVariation UNIPROT Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059

2002
dbSNP: rs63751273
rs63751273
MAPT
T 0.900 CausalMutation CLINVAR Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation. 11756436

2002
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. 12111297

2002
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254

2001
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes. 11278002

2001
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Mutations in the microtubule-associated protein tau, including P301L, are genetically coupled to hereditary frontotemporal dementia with parkinsonism linked to chromosome 17. 11013246

2001
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD. 11598310

2001
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. 11071507

2000
dbSNP: rs63750756
rs63750756
MAPT
0.900 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
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. 11117541

2000