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 UNIPROT Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. 10214944

1999
dbSNP: rs63750756
rs63750756
MAPT
0.900 GeneticVariation UNIPROT 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 BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286

2007
dbSNP: rs63750756
rs63750756
MAPT
0.900 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
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: rs63750756
rs63750756
MAPT
0.900 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
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
0.900 GeneticVariation UNIPROT Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059

2002
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion. 26567742

2016
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. 28268100

2017
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms. 17764851

2007
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). 23885714

2013
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Their formation has been reproduced in transgenic mice, which express the FTDP-17-associated mutation P301L of tau. 16879631

2006
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: 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 Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy. 27859539

2017
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation. 31537395

2019
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE Forebrain-specific over-expression of human tau(P301L), a mutation associated with frontotemporal dementia with parkinsonism linked to chromosome 17, in rTg4510 mice results in the formation of NFTs, learning and memory impairment and massive neuronal death. 22027994

2012
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs63751273
rs63751273
MAPT
0.900 GeneticVariation BEFREE The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. 9736786

1998
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 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 Then, we investigated if an altered tau, such as the P301L mutated protein associated with frontotemporal dementia, could produce nuclear pathology. 18583940

2008
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