rs17602729
rs17602729 (c.34C>T, historically the AMPD1*2 allele) is a nonsense variant in AMPD1 that introduces a premature stop codon (Gln12Ter) in exon 2, producing a truncated, catalytically inactive AMP deaminase 1 enzyme, the muscle-specific isoform that helps regenerate ATP via the purine nucleotide cycle during exercise. T-allele carriers, especially TT homozygotes, show impaired ATP regeneration and earlier fatigue, which manifests as increased perceived post-exercise soreness, delayed strength recovery, and higher risk of musculoskeletal/soft-tissue injury.
Traits rs17602729 reads
Gene
Reference databases
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