Table 2 Summary of splicing abnormalities and SpliceAI predictions
From: Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
Family | Gene | Variant | Effect on transcript | Acceptor loss | Donor loss | Acceptor gain | Donor gain | ORF |
|---|---|---|---|---|---|---|---|---|
F1 | SGCA | Intron 1: c.37 + 6 T > C | Exon 1 extension | 0 | 0.51 | 0 | 0.25 | Out of frame |
F2 | SGCA | Intron 1: c.38-2A > C | Exon 2 shortening | 0.96 | 0 | 0.68 | 0.09 | In frame |
F3 | SGCA | Intron 2/exon 3: c.158-2_167del | Exon 3 skipping | 0.99 | 0 | 0.49 | 0.01 | Out of frame |
F25 | SGCA | Intron 5: c.584 + 1G > A | Exon 5 extension | 0 | 0.99 | 0.01 | 0.54 | Nonsense codon |
F26 | SGCA | Intron 5: c.584 + 5G > T | Exon 5 extension | 0 | 0.58 | 0.01 | 0.48 | Nonsense codon |
F37 | SGCB | Intron 5: c.753 + 5G > A | Exon 4 skipping | 0 | 0.86 | 0.02 | 0 | In frame |
F53 | SGCD | Intron 6: c.502 + 24695G > T | Pseudoexon creation | 0 | 0 | 0.95 | 1.00 | Nonsense codon |