The mutation is a T to C transition at base pair 106,224,647 (Build 38) on Chromosome 9, or base pair 2,050 in the GenBank genomic region NC_000075, in the second of the gene's two exons; this corresponds to nucleotide 1,242 in the mRNA sequence NM_031178. The mutation results in a leucine (L) to proline (P) substitution at amino acid position 379 (L379P) of the protein.