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. 2013 Oct 3;93(4):765–772. doi: 10.1016/j.ajhg.2013.08.014

Figure 2.

Figure 2

Localization and Impact of the Mutations in RARB

(A) Shown are the positions of the mutations with respect to the different RARB Ensembl-annotated transcripts that are predicted to produce proteins. Numbering on top is based on the cDNA positions of Ensembl ENST00000330688 (identical to RefSeq NM_000965.3).

(B) A schematic of RARB shows the DNA-binding and hormone-binding domains. Arrowheads above the protein show the positions of the variants.

(C) The HomoloGene-generated amino acid alignment of human RARB and its predicted orthologs shows the conservation of the p.Arg387 residue.

(D) The three-dimensional structure of RARB (Protein Data Bank ID 4DM8) in the presence of the RA ligand (purple) shows the proximity of the Arg387 residue in helix 11 to the RA ligand.