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. 2017 Oct 23;46(Database issue):D213–D217. doi: 10.1093/nar/gkx997

Figure 2.

Figure 2.

APPRIS annotations for gene GRIFIN. (A) APPRIS results for the three protein-coding variants from the gene reference sets, GENCODE (Ensembl), RefSeq and UniProtKB. APPRIS chooses isoform ENST00000614228+A4D1Z8 as the principal isoform (highlighted in green), which belongs to Ensembl and UniProtKB. A selection based on the 3D structure, the functional domains and the conservation in related species. (B) Alignment for a section of the Pfam galectin family of proteins. The red arrow shows where 8 extra residues in the RefSeq variants would disrupt a region of the galectin functional domain of GRIFIN. (C) The 3D structure of 4LBJ (human galectin-3 CRD) that has 29% identity with variants ENST00000614228+A4D1Z8. The galectins are a family of proteins defined by their binding specificity for β-galactoside sugars (displayed in light yellow spheres). The red arrow shows where the 8 extra residues would have to insert into the structure, breaking a β-sheet.