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Figure 2 | BMC Medical Genetics

Figure 2

From: Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

Figure 2

Schematic illustration of the R-spondin 4 (RSPO4) structure with functional domains (boxed) and the relative positions of the 17 mutations known to date in anonychia/hyponychia [2–7 and this study]. The predicted effects of 13 coding mutations on RSPO4 are indicated. Four additional variants involve non-coding regions, i.e. one deletion and three splice site mutations, and the genomic positions for these variants are given arbitrary. The five protein domains are encoded by five corresponding exons in the RSPO4 gene. Three missense variants identified in this study (p.M1I, p.R60W and p.C118Y) are all positioned in functional domains of which p.M1I should be considered a polymorphism. The degree of conservation across various species is shown for regions around the residues p.M1, p.R60 and p.C118 indicated by shaded areas, respectively (bottom). Notably, the signal peptide domain is less conserved than the furin-like repeats.

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