Figure 2 | Scientific Reports

Figure 2

From: Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity

Figure 2

Effect of nonsense and indel (inframe) variants in DNASE1 on the enzyme activity. The DNase I activity in lysates from cells transfected with expression vectors corresponding to these nonsense and indel (inframe) variants was determined by the SRED method, respectively (Supplementary Table 4). The positions of the amino acid residues affected by mutation are shown on the precursor of the DNase I protein represented as a solid bar. Solid, grey and open arrows indicate the variants abolishing, reducing and not affecting the DNase I activity, respectively.

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