Table 1 of Jin, Mol Vis 2010; 16:2253-2258.

Table 1. Activation of aberrant 3′ splice sites in terminal introns/exons.



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