Fig. 1
From: Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction
Source: P – the variant was identified earlier in patients with MPS IVA, DB – the variant was registered in mutation databases without association with MPS IVA patients. b, c –RNA analysis results of patients’ white blood cells samples. In both cases, additional high molecular weight isoforms were detected, which turned out to be PEs, activated by the c.423-862C > T and the c.1003-1570G > T variants, respectively. d –structure of the minigene vector pSpl3-Flu2-miniTK. e – scheme of the studied genomic loci cloned into the multiple cloning site of pSpl3-Flu2-miniTK. f – the results of HEK293T cells transfection with wild-type and mutant minigenes. Minigene-specific splicing products were amplified and visualized by 3% agarose gel electrophoresis
Overview of the studied variants and minigene assay. a—Classification of the studied variants based on predictive scores. The main group consists of variants with high predictive scores (DS ≥ 0.5), while the additional group comprises variants with medium predictive scores (0.2 < DS < 0.5) located in the vicinity. SpliceAI: DS – delta score, AG/AL – acceptor splice site gain/loss, DG/DL – donor splice site gain/loss.