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. 2021 Jun 18;11:12889. doi: 10.1038/s41598-021-92198-9

Figure 1.

Figure 1

ITLN1 polymorphisms. (a) The physical arrangement of ITLN1 relative to centromere/telomere orientation and flanking genes on chromosome 1q23.3 is diagramed, along with single nucleotide polymorphisms associated with human disease, including IBD: rs465694023, rs1126550158, rs1205871759, rs1157877060, rs4656953 61, rs133306224, rs227490730, rs227490830, rs22749101, rs229755925, and rs465695825–27. Red text highlights GWAS-identified SNPs. (b) 1000 Genomes Project Phase 3 super population allele frequency (percentages) of rs2274907 (A/T, V109D): AFR, African; AMR, American, EAS, East Asian; EUR, European; SAS, South Asian31,32. (c) 3D structure of human trimeric ITLN1 bound to β-D-galactofuranose (black). The distance between V109 residue (red) and coordinating calcium (green) are indicated on each monomer (PDB: 4WMY). (d) Amino acid sequence adjacent to coding variant rs2274907 (V109D) in orthologs of human ITLN1 (“—” identical residue present ITLN1).