Cpe^fat

The molecular mutation responsible for the phenotype in the fat mouse is a T to C transition at coding nucleotide 730 of the mRNA. The codon of this nucleotide corresponds to amino acid 244 of the unprocessed preproenzyme or amino acid 202 of the mature peptidase. The mutation alters a conserved serine to a proline residue in the encoded protein (p.S244P). Enzymatic activity of the mutant protein was shown to be abolished in fluorometric assays in vitro. (J:24436)