Fig. 2: Schematic representation of the splicing patterns identified in the index case.
From: Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
Thin and bold arrows represent mutations. a Normal COL6A3 allele in the index case. b Mutant COL6A3 allele with two closely spaced mutations. c COL6A3 mRNAs. The dotted lines indicate the splicing events. Splicing pattern ①: Normal mRNA was produced from the normal allele (a, c①). Splicing patterns ② and ③: The c.6283-1 G > T mutation resulted in the skipping of exon 18, whereas the c.6310-2 A > T mutation activated the cryptic splice sites in the 37- and 42-nt sequences upstream of exon 19. The MaxEntScan and Shapiro’s score (in parentheses) of each splice acceptor site are depicted below each authentic and cryptic splice acceptor site. Both scores of the authentic splice acceptor sites were decreased by these mutations. Boxes and lines indicate exons and introns, respectively, and the numbers in the boxes indicate the exon number. Gray and black boxes represent the 37- and 42-nt sequences of the latter part of intron 18, respectively, and the dotted box indicates the skipped exon. Partial nucleotide sequences of the introns are shown above the line
