rs4880
rs4880 is the SOD2 Val16Ala missense variant (c.47T>C) in the mitochondrial targeting sequence of manganese superoxide dismutase (MnSOD), the enzyme that neutralizes superoxide radicals inside mitochondria. The Ala allele folds into a stable alpha-helix that imports efficiently into mitochondria and gives roughly 30-40% higher SOD2 activity, while the Val allele's less stable helix imports less efficiently and lowers activity. This difference in mitochondrial antioxidant capacity is the basis for the Oxidative-stress pathway trait.
Traits rs4880 reads
Gene
Reference databases
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