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Fig. 3 | BMC Endocrine Disorders

Fig. 3

From: A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

Fig. 3

Three-dimensional structural modeling of wild-type and mutant GATA3 proteins. a, Wild-type GATA3 protein. b, GATA3 mutant protein (R299Q). c, Merge of (a) and (b). Residues 263–347 are shown. This region includes ZnF1 (residues 264–288) and ZnF2 (residues 318–342). The arrows indicate residues 263 (N-terminal) and 299. Residues with a significant conformational change by R299Q mutation are color-coded (bright yellow [wild-type] and green [mutant])

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BMC Endocrine Disorders

ISSN: 1472-6823

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