893bp deletion ( 3R:12426793..12427685 , release 6 genome) that encompasses a large portion of the two NANS exons. A 20bp insertion (ATTGTATTGTTGTAACCCAT) of unknown origin (likely inserted during the NHEJ repair process) is found between the deletion endpoints, leading to the conceptual translation of a 78 amino acid long product (MLLNDIISGKLVDSVYIIAEIGQNHQGCVETAKKMIWEAKKAGCHCVKFQKSDLPAKFTRYCIVVTHGLQVAIGRYGH) with the first 60 amino acid residues derived from the endogenous wild-type NANS protein. The deletion is predicted to eliminate any possible biochemical activity of the NANS protein.
NANSDelta23 carries an 893bp deletion ( 3R:12426793-12427685 - Release 6) and an insertion of a 20bp sequence of unknown origin (ATTGTATTGTTGTAACCCAT).
ATTGTATTGTTGTAACCCAT