Fig. 3
From: Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
The splicing pattern of patient 2 was investigated using the COL4A5 gene constructs. (A) A schematic diagram depicting splicing. The splicing schematic diagram indicates that the mutation in question may result in a splicing variation of exon 46 of the COL4A5 gene, as predicted by the Bioinformatics software, dbscSNV and SpliceAI. (B) A splicing pattern of the COL4A5 gene variant c.4298-20T > A was verified through a minigene experiment, wherein both the wild-type (COL4A5-WT) and mutant (COL4A5-MT) versions of the gene were introduced into 293T cells on a transient basis. Following the extraction of RNA, the splicing products underwent analysis via RT-PCR. The lower bands indicate accurate splicing, whereas the higher bands signify the insertion of 18 nucleotides in intron 46 of COL4A5