Figure 1.

Exon 8/9 is hot spot region for mutations in the WT1 gene. Gene is shown out of scale. NM_024426.4: Wilms tumor isoform D of WT1 was used as reference sequence. The bold, italic text indicates missense mutations affecting nucleotides coding for residues important for interaction with target DNA: 434–449 in exon 8 and 461–469 in exon 9 (Swiss-Prot: P19544). The lysine-threonine-serine (KTS) splice site mutations are mapped below. The number of patients affected is specified. Asterisk, translation termination (stop) codon, according to the Human Genome Variation Society.