PMC4624095_01
Schematic of PDX1 transcription factor showing known MODY4 mutations (black) and novel MODY4 gene mutation (red) at respective codon sites (5). P: proline; E: glutamic acid; K: lysine; G: glycine; T: threonine.
cmed-8-2015-083f1.jpg
PMC4624095_01_cmed-8-2015-083f1.jpg
f1-cmed-8-2015-083
This mutation caused a deletion of four nucleotides and insertion of four different nucleotides, causing the wildtype glycine to be substituted by serine at position 232 and introducing a novel stop codon at position 233 (Fig. 1).