In silico prediction of the effect of IVS3+2–5del in the RSPH4A gene.

Default splice sites in IVS3 result in the proper protein sequence (donor in phase 2, acceptor in phase 0). All alternative donor sites predicted for the sequence with IVS3+2–5del mutation (located either within exon 3 or within intron 3, all in phase 1) result in a frameshift and a premature stop codon; acceptor site remains unchanged. Intronic sequences in the RSPH4A sequence are indicated by lowercase letters. The two most conserved positions of a consensus donor and acceptor splice site are underlined.