Rs1815739
| muscle performance |
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1815739 |
| PheGenI | rs1815739 |
| nextbio | rs1815739 |
| hapmap | rs1815739 |
| 1000 genomes | rs1815739 |
| hgdp | rs1815739 |
| ensembl | rs1815739 |
| gopubmed | rs1815739 |
| geneview | rs1815739 |
| scholar | rs1815739 |
| rs1815739 | |
| pharmgkb | rs1815739 |
| gwascentral | rs1815739 |
| openSNP | rs1815739 |
| 23andMe | rs1815739 |
| 23andMe all | rs1815739 |
| SNP Nexus | |
| SNPshot | rs1815739 |
| SNPdbe | rs1815739 |
| MSV3d | rs1815739 |
| Gene | ACTN3 |
| Merged from | Rs2228325 |
| Chromosome | 11 |
| Orientation | plus |
| Position | 66328095 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 2.3 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.2 | better performing muscles |
| (C;T) | 2.1 | mix of muscle types |
| (T;T) | 2.3 | impaired muscle performance |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
In the (C;C) genotype is often called RR. The truncated (T;T) is often called XX.
[PMID 18043716] (T;T) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance.
The most common nucleotide at this position, (C), encodes an arginine (amino acid code R), the alternative T allele encodes a stop codon (X). Hence, the SNP is referred to as R577X, with homozygotes being either RR or XX and heterozygotes being RX. XX individuals completely lack the expression of alpha-actinin-3.
An earlier report studying a relatively small number of Australian elite (i.e. ~Olympic) athletes found that, at least in females, the R allele (ie rs1815739(C)) is associated with sprinters, while the X allele (rs1815739(T)) is associated with endurance athletes. No female or Olympic-level sprinters were XX homozygotes (rs1815739(T;T)). The association tended the same way but was statistically weaker in males. [PMID 12879365]
There have been several subsequent studies, but few with large sample sizes and thus few with much statistical power. An example of a typical study: no increase in endurance ability was associated with the X allele in elite male cyclists. [PMID 16612741]
An extensive blog post from one of the original authors of this research.
| ClinVar | |
|---|---|
| Risk | rs1815739(C;C) |
| Normal | rs1815739(T;T) |
| Significance | 4 |
| Disease | |
| ClinVar | info |
| Gene | ACTN3 |
| CLNDBN | |
| Reversed | 0 |
| CLNHGVS | NC_000011.9:g.66328095T>C |
| CLNSRC | |
[PMID 18852891] Distribution and effects of nonsense polymorphisms in human genes.
[PMID 19237423] Is there an optimum endurance polygenic profile?
[PMID 19544227] ACTN3 R577X polymorphism and Israeli top-level athletes.
[PMID 20005538] Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?
[PMID 20561285] ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
[PMID 20845221] ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.
[PMID 20936592] Association between the ACTN3 R577X polymorphism and female endurance athletes in China.
[PMID 21407828] Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
[PMID 21542061] ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies.
[PMID 22224919] ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers.
| GET Evidence | |
|---|---|
| ACTN3-X577R | |
| aa_change | Stop577Arg |
| aa_change_short | X577R |
| impact | not reviewed |
| qualified_impact | Insufficiently evaluated not reviewed |
| overall_frequency | |
| summary | |
