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. 2014 Apr 24;99(8):E1510–E1518. doi: 10.1210/jc.2014-1332

Figure 4.

Figure 4.

Structure of the ACAN gene and aggrecan protein and the locations of current and previously reported mutations. A, Top panel shows the gene structure (RefSeq NM_013227.3) of ACAN and the locations of the variants identified in Families 1, 2, and 3, as well as the previously identified pathogenic variants (SEDK, spondyloepiphyseal dysplasia type Kimberly; SEMD, spondyloepimetaphyseal dysplasia; OD, osteochondritis Dissecans); B) Organization of the aggrecan proteoglycan (G1, 2, 3, globular domain 1, 2, 3; IGD, interglobular domain; KS, keratan sulfate; CS1, 2, chondroitin sulfate 1, 2; CLD, C-type lectin domain; CRP, complement regulatory like domain; EGF1, 2, epidermal growth factor–like domain 1, 2). Protein coordinates are based on RefSeq NP_037359.3. Figures are modified from (29) and are drawn approximately to scale.