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. 2016 Feb 6;31(6):1200–1206. doi: 10.1002/jbmr.2778

Figure 1.

Figure 1

Schematic representation of the genomic organization of the human GNA11 gene showing the locations of FHH2‐causing mutations. The GNA11 gene consists of 7 exons with the start (ATG) and stop (TGA) codons located in exons 1 and 7, respectively. The GTPase domain (encoded by exon 1, 5' portion of exon 2, 3' portion of exon 4 and exons 5 to 7) is connected to the helical domain (encoded by the 3' portion of exon 2, exon 3, and 5' portion of exon 4) by the linker 1 (L1) and linker 2 (L2) peptides. The locations of the P‐loop (P) (red line), three flexible switch regions (S1 to S3) (red line), and the interdomain interface (comprising portions of the α1, αF, α5, β1, P‐loop, and L1 peptide motifs) (blue line) are shown below the GNA11 exons. The previously reported loss‐of‐function Leu135Gln and Ile200del mutations11 are located in the helical and GTPase domains, respectively, whereas the Thr54Met mutation (bold), identified by this study, is located at the interdomain interface. Coding regions are shaded gray and untranslated regions are represented by open boxes.