Article
A compensatory effect upon splicing results in normal function of the CYP2A6*14 allele.
Pharmacogenetics and genomics - 1 Mar 2013
Bloom A Joseph, Harari Oscar, Martinez Maribel, Zhang Xiaochun, McDonald Sandra A, Murphy Sharon E, Goate Alison
Abstract excerpt
A synonymous variant in the first exon of CYP2A6, rs1137115 (51G>A), defines the common reference allele CYP2A6*1A, and is associated with lower mRNA expression and slower in-vivo nicotine metabolism. Another common allele, CYP2A6*14, differs from CYP2A6*1A by a single variant, rs28399435 (86G>A, S29N). However, CYP2A6*14 shows in-vivo activity comparable with that of full-function alleles, and significantly...
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