A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

Figure 2

(a) The sequencing result of the COMP mutation. Sequence chromatograms indicate the heterozygous variant (c.1317C>G, p.D439E) in all affected members of this family. (b) The mutated site (D439E) is highly evolutionary conserved across species. The red graph represents mutated amino acids, and the black box emphasizes these sites across species for comparison. (c) The protein complex of COMP with or without mutants. Green balls represent Ca²⁺.

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