The mutation is an A to T transversion at base pair 126,763,512 (v38) on chromosome 7, or base pair 4,114 in the GenBank genomic region NC_000073. The mutation corresponds to residue 681 in the mRNA sequence NM_011952 within exon 4 of 9 total exons. The mutation results in substitution of lysine (K) 221 to a premature stop codon. (J:221481)