Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Importantly, loss of DJ-1 function upon knock down (KD) or expression of the PD associated form L166P resulted in the absence of HMW DJ-1 complexes. 29016861

2017

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Although the most dramatic L166P point mutation practically eliminates DJ-1 protein and function, the effects of other PD-linked mutations are subtler. 23241025

2013

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE In total, our results provide evidence that direct proteasomal endoproteolytic cleavage of DJ-1 L166P is the mechanism of degradation contributing to the loss-of-function of the mutant protein, a property not shared by other DJ-1 missense mutants associated with PD. 22173095

2012

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Parkinson's disease DJ-1 L166P alters rRNA biogenesis by exclusion of TTRAP from the nucleolus and sequestration into cytoplasmic aggregates via TRAF6. 22532838

2012

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Parkinson disease (PD)-associated genomic deletions and the destabilizing L166P point mutation lead to loss of the cytoprotective DJ-1 protein. 19293155

2009

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Here we have used solution state NMR and circular dichroism spectroscopies to evaluate the extent of structural perturbations associated with five different Parkinson's disease linked DJ-1mutations: L166P, E64D, M26I, A104T, and D149A. 18436956

2008

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Molecular basis for the structural instability of human DJ-1 induced by the L166P mutation associated with Parkinson's disease. 18707128

2008

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Molecular dynamics calculations suggest that: (i) the structure of DJ-1 wild type (WT) in aqueous solution, in both oxidized and reduced forms, is similar to the crystal structure of the reduced form; (ii) the Parkinson disease-causing M26I variant is structurally similar to the WT, consistent with the experimental evidence showing the protein is a dimer as WT; (iii) R98Q is structurally similar to the WT, consistent with the fact that this is a physiological variant; and (iv) the L166P monomer rapidly evolves toward a conformation significantly different from WT, suggesting a change in its ability to oligomerize. 17504761

2007

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Both homozygous (L166P, M26I, deletion) and heterozygous mutations (D149A, A104T) in the DJ-1 gene have been identified in Parkinson's disease (PD) patients. 15944198

2005

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. 15966003

2005

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Our studies revealed that the Parkinson's disease-linked L166P mutation impaired the intrinsic folding propensity of DJ-1 protein, resulting in a spontaneously unfolded structure that was incapable of forming a homodimer with itself or a heterodimer with wild-type DJ-1. 14665635

2004

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Deletion and point (L166P) mutations of DJ-1 have recently been shown to be responsible for the onset of familial Parkinson's disease (PD, PARK7). 14749723

2004

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE These properties of the L166P mutation may contribute to the loss of normal DJ-1 function and are likely to be the underlying cause of early onset PD in affected members of the Italian kindred. 14713311

2003