Fig. 6.

ILK point mutations in human EVR patients. a, b Sanger sequencing of three different ILK point mutations identified in four patients (a). The corresponding changes in the primary sequence and location of the affected amino acid residues (red box) within different domains of the gene product are indicated (b). Mutation NM_004517.2:c.157T > A changes Leucine to Methionine at position 53 (p.Leu53M) of the ILK protein, NM_004517.2:c.631C > T changes Arginine to Cysteine at position 211 (p.Arg211Cys), and NM_004517.2:c.950G > A changes Arginine to Glutamine at position 317 (p.Arg317Gln). c Alignment of ILK amino acid sequences in different species, as indicated. Altered amino acid residues in FEVR patients are highlighted in gray and marked by arrows. All mutated sites are highly conserved. d ILK siRNA targeting strategy and generation of siRNA-resistant cDNA sequences, which avoid siRNA binding without changing the primary sequence of the gene product