Fig 1.
Clinical characteristics of the proband with non-syndromic oligodontia.
(A) Clinical phenotype of the proband. (B) Panoramic radiograph of the participant. (C) Schematic presentation of congenitally missing teeth of the proband. * Position of a missing tooth;? Undetermined position of a missing tooth.
Fig 2.
Sequence analyses of the AXIN2 gene.
(A) A normal control shows the wild-type genotype. (B) A de novo heterozygous mutation, c.314T>G, was found in the proband, but not in his parents.
Fig 3.
Structure and conservation analysis of the p.Val105Gly mutation in AXIN2.
(A) The AXIN2 protein is 777 AA long with 4 conserved domains. The 105th AA position is mutated in the proband Val105Gly which resides in the RGS domain. (B) Evolutionary conservation analysis revealed that the Val105 site is conserved from zebrafish to humans. There are 28 out of 33 AA near the Val105 site that are conserved, this is a very high degree of conservation. (C) WebLogo analysis showed that the RGS domain (from zebrafish to humans) was relatively conserved. TNKS_binding: Tankyrase binding N-terminal segment of axin; RGS: Regulator of G protein signaling (RGS) domain; DAX: Domain present in Dishevelled and Axin.
Fig 4.
Structural analysis of the RGS domain of the AXIN2 protein.
(A) Location of the Val105 residues within the RGS domain of AXIN2. (B) Location of the Gly105 residues within the RGS domain of AXIN2.