Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

2015

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 Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson disease, is due to direct endoproteolytic cleavage by the proteasome. 22173095

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 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 A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. 14713311

2004

dbSNP: rs28938172
rs28938172
0.100 GeneticVariation BEFREE Familial Parkinson's disease-associated L166P mutation disrupts DJ-1 protein folding and function. 14665635

2004

dbSNP: rs74315351
rs74315351
0.040 GeneticVariation BEFREE Consequently, the peripheral cysteine mutants retained cytoprotective activity, whereas the PD-associated mutant [M26I]DJ-1 failed to suppress ASK1 activity and nuclear export of the death domain-associated protein Daxx and did not promote cytoprotection. 19293155

2009

dbSNP: rs74315351
rs74315351
0.040 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: rs74315351
rs74315351
0.040 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: rs74315351
rs74315351
0.040 GeneticVariation BEFREE A homozygous M26I missense mutation was also recently reported in an Ashkenazi Jewish patient with early onset PD. 14713311

2004

dbSNP: rs145196092
rs145196092
0.010 GeneticVariation BEFREE Two novel DJ-1 mutations, c.91-2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ-1.Mutations in PINK1 were not observed. 21322020

2011

dbSNP: rs71653619
rs71653619
0.010 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: rs74315352
rs74315352
0.010 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: rs774005786
rs774005786
0.010 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