- 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: