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. TT homozygotes have no detectable AMPD1 activity. Heterozygote enzyme activity overlaps with wild-type. Population studies, including a FinnGen scan of 2,469 phenotypes with UK Biobank replication, find no muscle or exercise phenotype associated with this variant.
Traits rs17602729 reads
Gene
Reference databases
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