UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population

Figure 2

Schematic of UGT1A1 (NM_000463) common and rare variants identified in infants with and without hyperbilirubinemia in Deutromalay ethnic group. Exons are presented in numbered black boxes. Intron, 5 UTR, and 3 UTR are presented in solid bar, the glycosylation sites (amino acids 102, 295, and 347) are presented in #, and novel mutations are marked with the sign. UGT1A1 enzyme has 3 domains: signal peptide domain (amino acid 1–27), UDP-glucuronosyltransferase 1-1 domain (amino acids 28–524), and transmembrane domain (amino acids 491–514) which is overlapping with second domain (grey box).