In silico predicted effect of group B variants and comparison with experimental results.

For all computational program except ASSA, the relative percent differences of the splice site prediction scores (SSPSs) in the wild-type and the mutated sequences are reported. For ASSA, which uses the information theory-base values (Ri), the percent differences of binding affinity in the mutated compared to the wild-type sequences are reported. Empty cells indicates natural splice site not recognized by the indicated programs, In silico analyses predicting spliceogenic (S) or non spliceogenic (NS) variants according to the described procedure (see text) are indicated. (C) indicates in silico predictions concordant with in vitro data; (D), discordant predictions. Abbreviations: HGVS, Human Genetic Variation Society (http://www.hgvs.org/mutnomen/).