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. 2012 Mar 13;53(3):1353–1361. doi: 10.1167/iovs.11-8026

Figure 5.

Figure 5.

Sequence chromatograms illustrating the missense mutation, conservation Asp129 in GNAT1 orthologs and the proposed model illustrating hydrogen bond interactions in wild-type and mutant GNAT1 proteins. (A) Forward and reverse sequence chromatograms of unaffected individual 9 (top traces) and affected individual 10 (bottom traces) illustrating the c.386A>G substitution. (B) Sequence alignment of amino acids 121-136 of GNAT1 illustrating the conservation of the amino acid Asp129 in red (blue, primates; green, placental mammals; and purple, vertebrates). The model illustrating molecular interactions for (C) the wild-type and (D) the mutant GNAT1 proteins. In the wild-type GNAT1, Asp129 forms hydrogen bonds with the surrounding amino acids, which are compromised in the p.D129G mutant protein.