Fig. 2.

Identification of the p.Arg702Ser mutation in family 2. A) Family pedigree; B) Direct sequencing of PCR products of exon 16 with overlapping peaks of the heterozygous c.2104C > A mutation; C) Immunofluorescence analysis showing myosin-9 small aggregates in the patient neutrophils; D) Effect of the mutation on the structure (1br2). The ribbon representation is shown with the same orientation as before. The side chain of Arg702 is shown in blue, Glu94 is shown in red.