rs4986990
This is a synonymous variant in the NAT1 gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (1)
▶Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3′ untranslated regionsFunctionalZhu Y. et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This functional study investigated the effects of NAT1 (N-acetyltransferase 1) genetic polymorphisms in the coding region and 3'-UTR on enzyme activity, mRNA, and protein levels using recombinant expression in COS-1 cells. The 1088T>A (rs1057126) and 1095C>A (rs15561) variants slightly reduced NAT1 catalytic activity and expression levels. A 9-base pair deletion in the 3'-UTR reduced activity, while the 445G>A (rs4987076), 459G>A (rs4986990), and 640T>G (rs4986783) coding region haplotype increased activity. These findings provide biological support for previously reported associations of 1088T>A and 1095C>A polymorphisms with birth defects including oral clefts and limb deficiency.
About NAT1
This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
View all NAT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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