Figure 4 | Scientific Reports

Figure 4

From: Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

Figure 4

Hereditary ACAN variants segregating with skeletal disorders. (a) ACAN variants (published until October 2021) are shown schematically on the domain structure of the aggrecan core protein. Missense variants are shown below the core protein, all other types of variants above. Variants linked to familial OCD are shown in red, SEMD in blue and SEDK in pink. Variants where OCD has been reported in only one family member are shown in green. The novel fOCD variants reported in this study are underlined. (b) Locations of amino acid residues mutated in missense ACAN variants shown on the structure of the G3 domain C-type lectin repeat. Green spheres represent coordinated calcium ions. ACAN variant colouring is the same as in (a).

Back to article page