The molecular lesion is a T to A transversion at base pair 101,745,645 (v38) on chromosome 4, or base pair 28,239 in GenBank genomic region NC_000070; this corresponds to nucleotide 1,181 in the mRNA sequence NM_146146, within exon 5 of 19 total exons. The mutation results in a methionine (M) to lysine (K) substitution at amino acid position 210 (M210K) of the protein. (J:216794)