Table 2 Data findings: CVs and percentage variation of wild type and mutant sequences in intron 11 of IDUA gene (http://www.umd.be/HSF/)
From: Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
Splice site type | Motif | New splice site | Wild type (WT) CV (0–100) | Mutant CV (0–100) | If cryptic site use, exon length variation (bp) | Variation (%) |
|---|---|---|---|---|---|---|
Acceptor | CCGCCCGGGCAGgc | ccgcccgggcagTC | 84.05 | 79.76 | NA | −5.1 |
Acceptor | CGGGCAGgcaagtg | ccgggcagtcaagTG | 64.94 | 68.57 | NA | New site + 5.59 |
Donor | CAGgcaagt | CAGtcaagt | 100 | 80.03 | 135 | WT site broken −19.97 |
Acceptor | Ggcaagtggcagtc | gtcaagtggcagTC | 73.99 | 77.65 | NA | + 4.95 |