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© Helen Hobbs, Nature Genetics V40, pp 1461, 2008
Association between a sequence variant in PNPLA3 (rs738409) and hepatic triglyceride content. (a) PNPLA3 is a 481-residue protein that contains a patatin-like domain at the N terminus with consensus sequences for a Ser-Asp catalytic dyad (Gly-X-Ser-X-Gly and Asp-X-Gly/Ala)14. The I148M substitution (rs738409) is located between the consensus sequences for the catalytic dyad and is highly conserved.
Identification of a PNPLA3 allele (rs6006460, encoding S453I) associated with lower hepatic fat content in African Americans in the Dallas Heart Study. (a) Exons and flanking introns of PNPLA3 were sequenced in the 32 European American and 32 African American men and women and in the 16 Hispanic men and women with the lowest and highest hepatic triglyceride (TG) content determined using proton magnetic resonance imaging2. The substitutions encoded by the nonsynonymous variations identified in individuals in only the high, only the low and in both the high and low groups are shown. All the variants not found in both groups were present in only a single subject unless otherwise indicated by a number in parentheses.The rs numbers for polymorphisms and the oligonucleotides used for PCR-sequencing of the coding regions are provided in Supplementary Tables |