Figure 3
From: Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
Protein structure of SF1. (a) Schematic view of the different domains of the SF1 protein. The approximate locations of previously published variants within NR5A1 in families affected by 46,XY DSD and 46,XX POI and sporadic cases of 46,XX POI are shown below the protein structure as resulting protein changes.11, 12 The novel 3-bp deletion in exon 6 of NR5A1 (p.(Lys372del)), located within the predicted LBD, is shown above the protein structure. (b) In silico predictions of the wild-type and (c) the p.(Lys372del) mutant SF1 proteins. The LBD is highlighted by green boxes, whereas the DBD is highlighted by blue boxes. Comparison of the wild-type and mutant SF1 structures indicates that the deletion of Lys372 results in the truncation of helix 8 (highlighted with white boxes) of the LBD at this position. Further changes in the secondary structure of the protein include the loss of the β-pleated sheets in both the LBD and the DBD, indicating a potential loss of the DNA-binding ability of the mutant compared with the wild-type SF1 protein.
