Fig. 5 | International Journal of Oral Science

Fig. 5

From: Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Fig. 5

Effect of mutation on AMBN function. a Conservation analysis of this abnormal variation by Polyphen-2. The result showed that amino acid 357 of AMBN was highly conserved between different species. b The 3D structure of mutated AMBN was different from that of the wild-type predicted by I-TASSER. c Subcellular localization of AMBN in HEK293 cells. The mutant AMBN was localized in the cytoplasm similar to the wild-type protein, but the mutant protein exhibited aggregation in transfected HEK293 cells. d The mRNA expression level of AMBN in HEK293 and HGF cells. Mutant AMBN mRNA expression was no different than that of the wild type in either HEK293 cells (P > 0.05) or HGF cells (P > 0.05). e Western blot analysis of AMBN expression. The results showed that mutant AMBN was expressed at a higher level than the normal state. NC, negative control. f The protein expression level of AMBN in HEK293 and HGF cells. Compared with the wild type, the protein expression level of AMBN was higher in HEK293 cells (P < 0.01) and HGF cells (P < 0.001). Data in d and f are presented as the mean ± SD of three independent experiments. *P < 0.05, **P < 0.01, or ***P < 0.001

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