T to C transition at base pair 46,307,720 (v38) on chromosome 19, or base pair 3,743 in the GenBank genomic region NC_000085. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 159-base pair exon 8. The mutation would cause an in-frame deletion of 53 amino acids beginning after amino acid 168 of the protein, which is normally 899 amino acids in length.