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Fig. 1 | Journal of Ovarian Research

Fig. 1

From: Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

Fig. 1

CYP11B1 sequencing results and 3D molecular schematic representation of the mutation site. a Compound heterozygous mutation (c.583 T > C and c.1358G > A) that leads to the conversion of tyrosine at amino acid position 195 to histidine (Y195H) and arginine at amino acid position 453 to glutamine (R453Q). b Three-dimensional model structure of CYP11B1. Green, E helix; red, L helix. The side chains of amino acid residues Y195 (on the E helix) and R453 (on the L helix) are depicted

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