Fig. 2From: A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case reportVerification and functional prediction of the c.3662C > T in the COL2A1 gene. A Pedigree of the family. B Sanger sequencing showed a homozygous missense variant in the patient, and the proband’s parents and brother were all heterozygous of the same locus. Black arrows, mutant base. C The position of the mutant residue, indicated in red, was highly conservedBack to article page