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. 2003 Sep 12;73(4):957–966. doi: 10.1086/378781

Figure 3.

Figure 3

A, Predicted CMG-2 protein domains. The protein is 487 amino acids in length and contains an N-terminal signal peptide, followed by a VWFA domain, a TM domain, and a cytosolic tail. Mutations were identified in exons 3, 7, 8, and 12 and are shown relative to affected protein domains. B, DNA sequence analysis of CMG-2 in individuals with ISH and JHF. Three homozygous mutations were identified: GAA→TAA (E220X) nonsense mutation in exon 8 of ISH1 family, GGC→GAC (G105D) missense mutation in exon 4 of JHF1 family, and CTA→CGA (L329R) missense mutation in exon 12 of JHF2 family. Both affected children in family ISH2 were compound heterozygotes: ATT→ACT (I189T) missense mutation (paternal allele) and a nucleotide insertion (P357insC) (maternal allele).