Fig. 3From: Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndromea Structure of human wild-type SRY protein in complex with the DNA. R130 (pink) is part of the random coil region of wild-type SRY protein. b The substitution R130P (blue) was shown through homology modelling to create steric hindrances (red dotted lines) to neighbouring residuesBack to article page