Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.
Latanya N CokeHongxiu WenMary E ComeauMustafa H GhanemAndrew J ShihChristine N MetzWentian LiCarl D LangefeldPeter K GregersenKim R SimpfendorferPublished in: Annals of the rheumatic diseases (2021)
SLE risk association in the DNASE1L3 locus is dependent on the missense SNP rs35677470, which confers a reduction in DNASE1L3 protein secretion but does not eliminate its DNase enzyme function.