Fig. 5. Structural analysis of disease-associated missense mutations of SRD5A2.

a Distribution of identified missense mutations of SRD5A2. The red bar length for each mutation site indicates how many times it was reported based on the data collected from HGMD and literature. The sites that are involved in the binding of NADP–DHF and the formation of the binding cavity are indicated by black and gray asterisks, respectively. The mutations presumably disrupting the steroid binding, the cofactor binding, and the catalysis are labeled in pink, cyan, and red, respectively. b Mapping of the mutation sites onto the SRD5A2 structure viewed from the side and the top of the transmembrane domain. The mutation sites are colored in red. c, d Environment of C133 and R246 suggesting their roles in protein folding.