NCIt definition : A change in the amino acid residue at position 367 in the 3 beta-hydroxysteroid dehydrogenase/Delta
5- 4-isomerase type 1 protein where threonine has been replaced by asparagine.;
NCIt note : For the HSD3B1 protein, asparagine at amino acid residue 367 occurs most frequently
across all demographics; however, the RefSeq protein sequence (NP_000853.1) has threonine
at residue 367.;