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. Author manuscript; available in PMC: 2016 Jun 1.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2015 Mar 17;103(6):479–487. doi: 10.1002/bdra.23358

Figure 1.

Figure 1

A MM patient carries a c.1446delT mutation. Sanger sequencing result of a reference allele c.1446T (arrow) is shown on the top panel A, and the sequencing result for the patient with the variant allele c.1446delT (arrow) is shown on the middle panel B. The variant sequence with c.1446delT is aligned under the reference sequence showing results of overlapping nucleotides in B. Panel C shows the predicted consequences of the c.1446dlT mutation (p.F482Lfs*31) resulting in frame shifting at codon 482 and addition of 31 amino acids unrelated to GLUT2 protein. Identical amino acids are bolded. The GLUT2 mutant protein loses 44 amino acids of the carboxy-terminus of the normal glucose transporter GLUT2.