Table 1 of Jin, Mol Vis 2010; 16:2253-2258. Table 1 of Jin, Mol Vis 2010; 16:2253-2258.
Table 1. Activation of aberrant 3′ splice sites in terminal introns/exons.
Gene |
Phenotype |
Mutation |
Location of cryptic 3′ ss |
Location of stop codon |
|---|---|---|---|---|
| CLN3 | Batten disease | IVS15–1G>T | E15+7 | E15+120 |
| G6PC | Glycogen storage disease type 1a | E5+86G>T | E5+91 | E5+512 |
| HPRT1 | Hypoxanthine-guanine phosphoribosyltransferase deficiency | IVS9–1G>A | E10+17 | E10+48 |
| HPRT2 | Hypoxanthine-guanine phosphoribosyltransferase deficiency | IVS9–2A>G | E10+17 | E10+48 |
| HPRT3 | Hypoxanthine-guanine phosphoribosyltransferase deficiency | IVS9–2A>T | E10+17 | E10+48 |
| CD40LG | X-linked hyper-IgM syndrome | IVS4–2A>G | E5+8 | E5+377 |
| UGT1A1 | Crigler-Najjar syndrome type 1 | IVS4–1G>A | E5+7 | E5+298 |
| APOE | ApoE deficiency | IVS3–2A>G | IVS3–52 | E4+718 |
| ERCC3 | Xeroderma pigmentosum | IVS14–6C>A | IVS14–4 | E15+132 |
| HBB | Beta-thalassaemia | IVS2-A>G | IVS2–271 | E3+129 |
| L1CAM | X-inked hydrocephalus, MASA syndrome, spastic paraplegia | IVS26–12G>A | IVS26–10 | E27+232 |
| MLYCD | Malonyl-CoA decarboxylase deficiency | IVS4–14A>G | IVS4–13 | E5+534 |
| MPO | Myeloperoxidase deficiency | IVS11–2A>C | IVS11–109 | E12+208 |
| SALL1 | Townes-Brocks syndrome | IVS2–19T>A | IVS2–17 | E3+441 |
| SOD1 | Amyotrophic lateral sclerosis | IVS4–10T>G | IVS4–9 | E5+108 |
| TPMT | Thiopurine methyltransferase deficiency | IVS9–1G>A | IVS9+1, IVS9–330 | E10+113 |