rs1805086

This is a variant in the MSTN gene that changes a lysine to an arginine.

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ClinVar annotation

Benign★★★☆
6 submitters4 publications

Myostatin-related muscle hypertrophy (MSLHP)

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Research that mentions this SNP (1)

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Association of the matrix metalloproteinase 3 (MMP3) single nucleotide polymorphisms with tendinopathies: case-control study in high-level athletes
Case reportNina Briški et al.(2021)· International Orthopaedics

This is a Turkish-language personalized nutrigenetics and epigenetics coaching report for individual Mehmet Efe Yildirim (Report No. 1332, dated 2023-11-21). The report analyzes the individual's genetic polymorphisms related to nutritional metabolism, food sensitivities, detoxification pathways, and other health-related traits, providing personalized dietary and lifestyle recommendations based on cited scientific literature. This is a direct-to-consumer genetic test report, not a peer-reviewed research study.

Traits studied:Alcohol metabolismAnxiety and panic disorderCaffeine sensitivityCholine metabolismCircadian rhythmExercise performanceFolate metabolismFood allergiesGluten sensitivityHistamine sensitivityHomocysteinemiaInflammatory markersLactose intoleranceLiver healthMicrobiota metabolismNFE2L2 pathwayObesity and weight managementOmega-3 metabolismPhase I detoxificationPhase II glutathione transferasePlant sterols metabolismRiboflavin metabolismSelenium metabolismSleep qualityUGT metabolismVitamin A metabolismVitamin B12 metabolismVitamin B6 metabolismVitamin C metabolismVitamin D metabolismVitamin K metabolismZinc metabolism
PubMedDOIMetascience Observatory

About MSTN

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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