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Figure 4 | BMC Medical Genetics

Figure 4

From: Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

Figure 4

a. Schematic representation of the human NPR-B structural and functional domains. Position of the missense mutation (p.T907Met) identified in NPR-B in the five families (A-E) is indicated by an arrow. LB, Ligand Binding: TM, Trans Membrane; KH, Kinase Homology; GC, Guanylyl Cyclase; aa, amino acid. b. Partial amino acid sequence comparison of human NPR-B protein with other orthologs. An arrow indicates threonine (T) residue conserved across different species.

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