Your result, the one DNA position behind it, and what the research says.
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Burning fuel for energy inevitably leaks reactive oxygen, and mitochondria mop it up with an enzyme called SOD2. The enzyme is built outside the mitochondrion and has to be threaded through its membrane, and this variant changes the shape of the threading signal itself. One version forms a tidy helix that feeds through easily; the other is floppier and gets imported less efficiently. The finished enzyme is identical either way, because the signal is trimmed off once the enzyme is inside. What differs is how much of the finished enzyme reaches the place it is needed.
Good to know: The enzyme is built outside the mitochondrion and must be imported into it. This variant changes the import signal, not the enzyme's own activity. Both versions are common, so neither is the unusual one.
Fun fact: The change alters a short signal sequence that acts like an address label, and a floppier label is read less reliably by the import machinery.
Discovery: The effect of this change on mitochondrial import efficiency was demonstrated in the early 2000s.
The single variant behind this trait
Gene: SOD2
Location: Chr 6:159,692,840
dbSNP rs4880
Content updated September 2026.
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