Adamts20^m5Btlr

The mutation is a T to G transversion at base pair 94,331,458 (Build 38) on Chromosome 15, or base pair 133,970 in the GenBank genomic region NC_000081. This site corresponds to nucleotide 3,040 in the mRNA sequence NM_177431 (isoform 1), within exon 20 of 39 total exons, and nucleotide 3,040 in the mRNA sequence NM_00164785 (isoform 2), within exon 20 of 28 total exons. The mutation results in a cysteine (C) to glycine (G) substitution at amino acid position 927 (C927G) in both protein isoforms. (J:220068)