The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development. J.L. Cunha, F.C. Soardi, R.D. Bernardi, L.E.C. Oliveira, C.E. Benedetti, G. Guerra-Junior, A.T. Maciel-Guerra and M.P. de Mello.
Figure 2. Representation of the SRY-DNA complex depicting the tip of helix 2 involved in the DNA interaction. The electrostatic surface of SRY shows that the side chain of E89 sits between R86 and K92. The picture was created with the program PyMOL using the 3-D coordinates of the SRY protein (PDB code 1J46) published by Murphy et al. (21).