Genomic mutation (1747G>T) in the proband and the cryptic acceptor splice site.

Normal protein 4.2 genomic DNA sequence is shown between nucleotides 1699-1779 (using cDNA numbered according to Sung et al2), also shown are the “gt” donor and “ag” acceptor sites of intron 10. The equivalent sequence in protein 4.2 Hammersmith shows the cryptic acceptor splice site (nucleotides 1748-1749) activated by the mutation. Wild-type (G) and mutated (t) position 1747 are marked with an arrow. Note that in protein 4.2 Hammersmith the normal “ag” acceptor site of intron 10 is present.