Figure 5. .

Positions of mutations in the CRLF1 gene and the CRLF1 protein. A, Intron/exon arrangement of the gene (dark shaded areas are the 3′ and 5′ UTRs) and domain (dom.) arrangement of the protein (light shaded area: WSXWS consensus sequence of the type I cytokine receptor family); red indicates mutations described in the present report; black indicates mutations described by Knappskog et al.²⁰ and Hahn et al.,²¹ gray indicates known polymorphisms, and pale red indicates the nonpathogenic variant described in the present report. B, Multiple-sequence alignment for CRLF1 homologues and position of missense mutations within the Ig-like domain. Conserved residues at the mutated positions are indicated in blue. Mouse (Mus musculus): Crlf1 (Q9JM58); zebrafish (Brachydanio rerio): protein Zgc:91992 (Q6D628); pufferfish (Tetraodon nigriviridis): class I helical cytokine receptor number 1 (Q6UAQ5); X. laevis (African clawed frog): GP130p1 (O57519). C, Schematic representation of the CRLF1 Ig-like domain homologous structure from NCAM. Equivalent positions of the mutated residues (W76 and R89 in CRLF1, together with D112, most probably involved in a salt bridge with R89) are shown in space-filling representation. The figure was drawn with ViewerPro 4.2 (ACCELRYS).