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Schematic presentation for the genomic localization and the sequence of splice site mutation. The IVS12-1 g>c mutation (indicated by an arrow) creates a 5' cryptic acceptor site (AG boxed in red) 8 bp downstream in exon 12 instead of a normal acceptor site (ag boxed in yellow). Sequencing of the mutant transcript shows that cryptic splice site leads to a frameshift and incorporation of faulty amino acids as compared to the wild type.
