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Article

ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.

Journal of sports sciences - 1 Oct 2010

Döring Frank E, Onur Simone, Geisen Ulf, Boulay Marcel R, Pérusse Louis, Rankinen Tuomo, Rauramaa Rainer, Wolfahrt Bernd, Bouchard C

Abstract excerpt

Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to α-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance...

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Source

Identifiers

PMID: 20845221
DOI: 10.1080/02640414.2010.507675

Genes

ACTN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20845221-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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