Table 2.
Main Characteristics of Single Nucleotide Polymorphisms of Superoxide Dismutase and Catalase
| Gene | dbSNP | Region | Nucleotide substitution | Aminoacid variation | Effects on AOE activity |
|---|---|---|---|---|---|
| SOD1 | rs17880135 | 3′ UTR | T>G | Not applicable | Unknown |
| rs204732 | 3′ near gene | G>A | Not applicable | Unknown | |
| SOD2 | rs4880 | Exon | G>A | Ala16Val (missense) | Unknown |
| rs5746136 | 3′ UTR | C>T | Not applicable | Less efficient transport into mitocondria; possible reduction of activity but not fully elucidated (157) | |
| SOD3 | rs8192287 | 5′ near gene | G>T | Not applicable | Probably relevant for translational control and mRNA stability; unknown effects on activity (30) |
| rs2536512 | Exon | A>G | Thr40Ala | Reduced activity (168) | |
| rs1799895 | Exon | C>G | Arg213Gly (missense) | Increased circulating levels (144) | |
| CAT | rs1001179 | 5′ near gene | −262C>T | Not applicable | Unknown |
| rs1049982 | 5′ UTR | −20T>C | Not applicable | Unknown | |
| rs769217 | Exon | C>T | Asp389Asp (synonymous) | Unknown |
Data regarding SNP localization and effects on nucleotide and amino-acid sequences were extracted from www.ncbi.nlm.nih.gov/SNP/accessed on 2013/07/15.
AOE, antioxidant enzyme; UTR, untranslated region.