Fig. 2: Genetic analysis of the COMP gene.
From: Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
a Chromatogram of exon 13 in case 1 indicates a 12-base deletion. b Chromatogram of exon 9 in case 2 indicates a 9-base deletion. c Evolutionarily conserved amino acids around the in-flame deletion in case 1. The red box shows deleted amino acids. d Evolutionarily conserved amino acids around the in-flame deletion in case 2. The red box shows deleted amino acids. e Consensus amino acid sequence of the type-3 TSP like domain. T1 to T8 represents each repeat. Each amino acid of the consensus motif is shown in red. The blue boxes show in-frame deletions in PSACH, and the green boxes show in-frame deletions in MED. The novel in-frame deletions in our patients are shaded in blue
