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. Author manuscript; available in PMC: 2023 Apr 1.
Published in final edited form as: Hum Mutat. 2022 Mar 7;43(4):511–528. doi: 10.1002/humu.24343

Figure 1. Deep Intronic DMD Point Mutations that Activate Pseudoexons.

Figure 1.

(A-H) Individual exon/intron diagrams for mutations that create cryptic splice acceptor (SA) or splice donor (SD) sites used for pseudoexon inclusion. The coding DNA (c.) nomenclature is based on NM_004006.2, and exon/intron sizes (not drawn to scale) are shown in nucleotides (nt) with mutation locations indicated with red arrows. (I,J) Mutations that inactivate AG dinucleotides in the polypyrimidine tract. (K) Exonic splice enhancer mutation +21 nucleotides from the 5’ splice junction. (L,M) Mutations activating cryptic SA sites associated with pseudo 3’-terminal exons. (N) Sequence logos showing the relative nucleotide proportions (probability) at each position of the pseudoexon SA and SD sites (upper panel) versus constitutive splice sites for DMD exons 1 to 79 of NM_004006.2.