Fig. 2 | Journal of Human Genetics

Fig. 2

From: A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Fig. 2

a Multiple species sequence alignment of known ectodysplasin (EDA)-A1 sequences showing a high evolutionary conservation around position M364. Sequences were obtained from ENSEMBL and analyzed using BioEdit v7.5.0.3. b, c Location of the Y320, Q364, and M364 residues within the tumor necrosis factor (TNF)-domain of EDA-A1 in the tertiary structure of the monomer (b, side view) and the quaternary structure of the homotrimer (c, view from top). A Y320C mutation was previously found implicated in the full ED syndrome, whereas a Q358E mutation was associated with isolated hypodontia. d Zoom-in of the TNF domain, indicating the M364 residue with neighboring amino acids. Pictures were generated using ViewerLite v5.0 and PDB file 1RJ7 (Hymowitz et al. 2003)

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