Article

R577X polymorphism of alpha-actinin-3 in human populations of North-Eastern Asia

2017-03-15

Abstract excerpt

Background. In polymorphism rs1815739, a C T transition converts arginine to a premature stop-codon at residue 577 of the alpha-actinin-3 (ACTN3) protein (R577X polymorphism). This polymorphism may affect muscle performance, and the derived 577X allele has been found to be under-represented in sprint/power athletes. In addition, loss of alpha-actinin-3 results in a shift in muscle metabolism toward the more effici...

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Literature Corpus work: 10a522ff-3a98-5b6c-84ed-751a45bbf8a9
DOI: 10.17816/ecogen15150-56

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