Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Figure 3

MUSCLE alignment of 11 different UBIAD1 homologues showing binding motifs. Shown are excerpts of homologous sequences of 11 different species, corresponding to amino acid residues 93 to 115 in human UBIAD1 protein. The boundaries of the cholesterol recognition/interaction amino acid consensus (CRAC) sequence are denoted by the dashed lines. The Asn102 and Thr103 residues are highlighted in blue and orange, respectively. All other reported mutations in this region associated with SCD are highlighted in gray. An asterisk () indicates residues that are fully conserved across all 11 aligned homologues.