Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Figure 4

Characterization of novel LEMD3 mutation. (a) 3D predicted conformation of native and mutated p.Trp620X Man1 protein (EsyPred3d modeling software) [31]. Note deletion of the DNA-binding and R-Smad recognition domains. (b) Amino acid sequence of Man1; letters represent amino acids as defined by IUPAC. The Trp620X codon is indicated. (c) List of functional domains and presence of domains in normal and mutated Man1 protein. (d) DNA sequence of LEMD3, highlighting the novel c.1863G > A mutation.

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