Fig. 4

Modeling studies of novel p.A191D variant in MATN3. a The model of the tertiary structure of human matrilin-3 (UniProt ID: O15232) as the wild type was constructed by SWISS-MODEL. b The model of the tertiary structure of mutated human matrilin-3was built by introducing the p.A191D variant into the wild type model using PyMOL v1.3. The p.A191D substitution caused conformational changes near to the variant site, resulting in losing a part of β-sheet of the single A domain of matrilin-3. β-sheet and α-helix structures of matrilin-3 were shown as yellow and red color, respectively