The mutation is a G-to-T transversion in the donor splice site of intron 13 (GT -> TT) (position 92056 in Genbank genomic region NC_000079). It is predicted to result in skipping of the 133-nucleotide exon 13 (of 27 total exons) and to shift the reading frame after codon 411, leading to a premature termination codon following codon 412. (J:132673)