Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs. 31543469

2019
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation. 29716656

2018
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Here, we demonstrate that MAPT p.R406W is sufficient to induce changes in GABA-mediated signaling and synaptic function, which may contribute to the pathogenesis of FTLD-tau and other primary tauopathies. 30546007

2018
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Mutations on tau associated with disease, e.g., R406W in frontotemporal dementia with Parkinsonism linked to chromosome 17, altered its conformation to make it a better substrate for kinases. 29614672

2018
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. 29370822

2018
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. 27345791

2016
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE The R406W amino acid substitution in Tau is associated with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) characterized by Tau-positive filamentous inclusions. 25794683

2015
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques. 25377499

2015
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses. 23727082

2014
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease. 12414518

2002
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. 12368474

2002
dbSNP: rs63750424
rs63750424
MAPT
0.800 GeneticVariation BEFREE We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 10995239

2000
dbSNP: rs63750424
rs63750424
MAPT
T 0.800 CausalMutation CLINVAR