Fig. 2
From: Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report

(A) The structure of meckelin protein encoded by TMEM67 gene and the location of the variations. (B) Three-dimensional structure diagram of meckelin and the location of the variations. (C) Display of protein truncation caused by nonsense mutations M772*. (D, E) Hydrogen bonds between amino acid residue 472 and surrounding residues 512, 514