The mutation is a T to C transition at base pair 10,031,534 (v38) on Chromosome 8, or base pair 25,342 in the GenBank genomic region NC_000074, corresponding to nucleotide 911 in the mRNA sequence NM_033622, within exon 6 of 7 total exons. The mutation results in a methionine (M) to threonine (T) substitution at amino acid position 232 (M232T) of the protein.