Figure 4. Diagram of the STRA6 protein
structure showing transmembrane regions, and intracellular and
extracellular domains. (Figure modified from Kawaguchi et al. [
24],
provided with the
author’s permission). Underlined sequence variants were found in this
study. The missense sequence variant at amino acid 217 changes a
hydrophobic glycine residue to a hydrophilic glutamic acid residue
located in a hydrophobic transmembrane region. The nonsense sequence
variant at amino acid 592 causes a premature stop codon on the
COOH-terminus end of the STRA6 protein. Previously discovered sequence
variants marked with asterisks are involved in human disease. Other
sequence variants are missense mutations annotated in the GenBank
database, and are not currently known to be associated with human
disease.