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