The mutation is a T to C transition at base pair 13,740,536 (Build 38) on Chromosome 13, or base pair 150,198 in the GenBank genomic region NC_000079, within exon 43 of the gene's 53 total exons; this corresponds to nucleotide 9,995 in the mRNA sequence NM_178666. The mutation results in a serine (S) to proline (P) substitution at amino acid position 3272 (S3272P) of the protein. (J:220065)