Fig. 3

Mutation analysis of the COL2A1 gene. Heterozygous mutation c.1142G > A (p.Gly381Asp) is denoted by the arrow. The glycine substitution mutation is in the Gly-X-Y triplet repeats region of the type II collagen triple helix (a). The glycine at amino acid 381 is highly conserved throughout species (b)