Mechanism:

  • This SNP, in the ACTN3 gene, encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein.
  • C encodes an arginine (amino acid code R)
  • TT individuals completely lack the expression of alpha-actinin-3.

The T (minor) allele is associated with:

  •  Endurance athletes were more likely to have the T allele [R].

The C (major) alelle is associated with:

  • Power and sprinter athletes were more likely to have the C allele [R].
  • Homozygous CC was associated with an increased risk for exercise-related muscle injury [R]

rs1815739

Parent Gene: ACTN3

Importance: 5
Less common allele: T = 40%
More common allele: C = 60%
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