Predicted effects of the 1876 +5G→A mutation.

Nucleotide and amino acid sequences surrounding the 1876 +5G→A mutation are shown. The G→A transition identified in intron 1 is expected to cause a read-through of the downstream intronic sequence, introducing an aberrant 16 amino acid polypeptide after the signal peptide. Exonic and intronic sequences are reported in upper or lower cases, respectively. The mutant nucleotide involved in 1876 +5G→A mutation is in bold-face type and shown above the wild-type boxed nucleotide. The signal peptide is underlined and the 16 aberrant amino acids are bolded. The premature stop codon, giving rise to a short protein of 42 amino acids, is indicated by an asterisk. Nucleotide sequence is numbered according to GenBank accession numberM10014.