Adamts20^m4Btlr

The mutation is a G to A transition at base pair 94,341,087 (Build 38) on Chromosome 15, or base pair 124,341 in the GenBank genomic region NC_000081. This site corresponds to nucleotide 2,510 in the mRNA sequence NM_177431 (isoform 1), within exon 16 of 39 total exons, and nucleotide 2,510 in the mRNA sequence NM_00164785 (isoform 2), within exon 16 of 28 total exons. The mutation results in a serine (S) to asparagine (N) substitution at amino acid position 750 (S750N) of both protein isoforms. (J:220067)