Figure 1.

Scheme of the currently known canonical and alternative HNF1B transcripts (according to the RefSeq database, accessed January 10, 2020). Alternative transcript NM_001165923 lacks 26 AA (78 bp) at the 5′ end of exon 3 (red box; named exon 3p). Alternative transcript NM_001304286 lacks the entire exons 7 and 8 which results in reading frame shift of exon 9 coding part (red box) and use of alternative STOP codon (92 bp after original STOP codon). The lengths of the exons are proportional. The white boxes illustrate the unaffected coding exons. Corresponding amino acid (AA) numbers for each isoform are indicated below the exon boxes. The green, grey, blue and orange areas illustrate the coding areas for functional domains across the HNF1B transcripts. UTR – untranslated region. NLS – nuclear localization signal (thick blue line). POU_S – POU specific domain. POU_H – POU homeodomain. The scheme was adopted² and modified.