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Fig. 7 | International Journal of Pediatric Endocrinology

Fig. 7

From: Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

Fig. 7

Figure 7a shows the FAM111A protein and Figures 7b and c show the 3D model. a The FAM111A protein is made up of 611 amino acid residues. Residues 329 to 492 and 529 to 603 are part of an InterPro domain named Peptidase S1, PA clan (IPR009003). Our novel variant p.Ser541Tyr lies in the same domain as a previously identified genetic variant, p.Arg569His, which has been associated with KCS Type 2. b and c SWISS-MODEL was used to generate a putative 3D model of FAM111A using the model template 4ic6.1, a protease that had the highest sequence identity (23.79%) to FAM111A. Only the peptidase domain of FAM111A could be modelled. Residue Ser541 is shown in 5B and Arg569 in Figure 7c

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