Fig. 5
From: Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Workup of the ClC-Ka/ClC-Kb hybrid genes in patients P6 and P11. ClC-Ka AA-sequence is indicated in light grey; ClC-Kb AA-sequence is indicated in dark grey; AA changes between wildtype ClC-Ka and ClC-Ka/ClC-Kb hybrid protein are annotated in the corresponding exon. AA changes analysed in detail in Figure 6 are shown in red. A Hybrid gene in patient P11. Breakpoint region in intron 7/8. Genomic sequence at the border between exon 7 and exon 8 divided into triplets and the corresponding AA are shown. Ser218 is the last AA encoded by exon 7 before the breakpoint region. B Hybrid gene in patient P6. Breakpoint region in intron 15/16. Genomic sequence at the border between exon 15 and exon 16 divided into triplets and the corresponding AA are shown. I540 is the last AA encoded by exon 15 before the breakpoint region. AA G541 is encoded by the last two nucleotides of exon 15 and the first nucleotide of exon 16. In the hybrid gene, the first nucleotide in exon 16 encoded by CLCNKB has changed from C>T but the corresponding AA G541 remains unchanged in the hybrid protein