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. 2010 Sep 13;120(10):3702–3712. doi: 10.1172/JCI43343

Figure 2. Mutation in the C3 gene in a multiaffected DDD pedigree.

Figure 2

Pedigree of index case GN28 is illustrated. Individuals are identified by numbers within each generation. Affected individuals are indicated by black symbols. The twin brother III-1 (gray symbol) has not developed ESRD, but shows early signs of disease. II-5 is a sister of GN28 whose death at 13 years of age was attributed to glomerulonephritis. C3 alleles carried by the individuals are shown. The chromatogram corresponding to the DNA sequence surrounding the mutated nucleotides in C3 is shown for GN28 and a control sample. The corresponding amino acid sequences for the WT and mutated alleles are indicated. Amino acid numbering refers to the translation start site (Met +1), and the nucleotide nomenclature refers to nucleotide A in the ATG translation initiation codon, according to Human Genome Variation Society recommendations for description of sequence variants.