T to A transversion at base pair 65,297,257 (v38) on chromosome 4, or base pair 173,084 in the GenBank genomic regionNC_000070.The mutation corresponds to residue 3,768 in the mRNA sequence NM_021362 within exon 13 of 22 total exons. The mutation results in a leucine to methionine substitution at position 1,134 (L1134M) in the PAPP-A protein. (J:274970)