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. 2013 Mar 7;92(3):354–365. doi: 10.1016/j.ajhg.2013.01.016

Figure 6.

Figure 6

Schematic Diagram of B3GALNT2 Exons, Mutations, and Alignment

(A) B3GALNT2 is 57,249 bp in length and contains 12 exons that are transcribed into a 4,720 bp RNA transcript (NM_152490.2). The coding sequence of B3GALNT2 is 2,015 bp long and contains 500 amino acids. This schematic diagram indicates the location of the known galactosyltransferase domain (black line indicating position in the protein, amino acids 307–457) as well as the location of the mutations found in affected individuals. These mutations are listed in Table 2.

(B) Alignment of a section of the protein sequence of B3GALNT2 in six species (Homo sapiens, Pan troglodytes, Mus musculus, Danio rerio, Canis lupus, Bos taurus) shows that the missense mutations identified in affected individuals (c.740G>A [p.Gly247Glu] and c.875G>C [p.Arg292Pro] in P1, c.755T>G [p.Val252Gly] in P4, c.802G>A [p.Val268Met] in P6) are well conserved across these species. This suggests structural or functional importance for these residues. Protein alignments were performed with NCBI Homologene software.