Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
MAPT
0.800 GeneticVariation BEFREE A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain). 31537395

2019
dbSNP: rs63751273
rs63751273
MAPT
0.800 GeneticVariation BEFREE Remarkably, the P301L mutation, related to frontotemporal dementia FTDP-17, impairs this mechanism leading to a loss of function. 30664870

2019
dbSNP: rs63751273
rs63751273
MAPT
0.800 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
0.800 GeneticVariation BEFREE Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau). 26861289

2016
dbSNP: rs63751273
rs63751273
MAPT
0.800 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
0.800 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
0.800 GeneticVariation BEFREE Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier. 15489396

2004
dbSNP: rs63751273
rs63751273
MAPT
0.800 GeneticVariation BEFREE Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. 12975285

2003
dbSNP: rs63751273
rs63751273
MAPT
0.800 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: rs63751273
rs63751273
MAPT
0.800 GeneticVariation BEFREE A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) 10219785

1999
dbSNP: rs63751273
rs63751273
MAPT
0.800 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
T 0.800 CausalMutation CLINVAR