In silico splice site predictions.

A comprehensive overview of identified splice site mutations in donor sites (DS) and acceptor sites (AS) of the ATP7A gene. The mutations are located in exon-intron boundaries in either the intervening sequence (IVS) or in the exon sequence (E). The various mutations lead to different MD phenotypes classified as classical MD (C), atypical MD (A), OHS (O) or unknown (−). The mutations were analysed with the online bioinformatics tool, Human Splicing Finder (HSF), to predict the splicing signals in wild-type and mutated DNA sequences. The strength of the splice sites is indicated by the consensus value (CV) and the CV variation (ΔCV). Potential cryptic splice sites predicted with HSF are given. Effects on pre-mRNA splicing that have been identified in vivo are listed.*Found in this study.