Figure 1.
(A, B ) Schematic representation of the human SMO coding region (cDNA) and its domains: CRD, Cysteine-rich domain (green); LD, Linker domain (orange); TMD, heptahelical transmembrane domain (blue); ICD, Intracellular domain (white in A, red in B). Asterisks indicate the position for each variant in the structure of SMO . (C ) Amino acid sequence alignment of Danio rerio , Homo sapiensand Mus musculus Smo orthologs. The residues conserved in all three species are shown in blue. The aminoacid position of each variant is shown on the top. The residues highlighted in yellow indicate the mutation site of each variant in the context of adjacent residues.