Figure 4.

C1QTNF5 protein domains and orthologous sequence alignment. (a) Schematic structure of human C1QTNF5 protein. Signal peptide, SP (amino acids 1–15), collagen domain containing 23 Gly-X-Y repeats (amino acids 30–98), and the gC1q domain (amino acids 99–243), cysteine residues, and the positions of three novel pathogenic mutations are shown. (b) Sequence conservation of L-ORD mutations in orthologous C1QTNF5 protein sequences. Orthologous sequences were obtained from ensembl, and aligned using ClustalOmega. Amino acid numbering is relative to human C1QTNF5. S163, P188 and G216 are shown in blue, and are completely conserved throughout mammals, birds, fish and reptiles.