Identification of a novel dinucleotide deletion in the SMED-SL patient. Direct sequencing analysis was carried out for all the coding exons of the DDR2 gene. (A) This panel shows a representative chromatogram of the DNA sequences indicating the c.2468_2469delCT mutation in the affected individuals and their parents. Arrows indicate the position of the c.2468_2469delCT mutation in the patient and one of the heterozygous carriers (B) Multiple sequence alignment of mutant and wild type DDR2 proteins from different species. The S823 residue is highlighted.