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. 2016 Jun 2;31(6):1207–1214. doi: 10.1002/jbmr.2797

Figure 1.

Figure 1

Schematic representation of the genomic organization of the human GNA11 gene showing the location of ADH2‐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 previously reported ADH2‐causing Arg60Cys (R60C), Arg60Leu (R60L), and Arg181Gln (R181Q) mutations3, 6, 7 are located at the interface between the helical and GTPase domains and adjacent to the linker peptides. The reported ADH2‐causing Ser211Trp (S211W) mutation is located in the α2 helix of the GTPase domain;6 and the Val340Met (V340M) mutation reported by this study (shown in bold), and the previously reported Phe341Leu (F341L) mutation3 are located in the α5 helix of the GTPase domain. Coding‐regions are shaded gray and untranslated regions are represented by open boxes.