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. 2021 May 15;72:126–134. doi: 10.1016/j.coi.2021.04.005

Figure 2.

Figure 2

Disease-associated CD46 mutations. A schematic depicting CD46 protein, genomic organization, and disease-associated amino acid mutations. CD46 has a 34-amino acid signal peptide (SP). The gene consists of 14 exons (numbered in black) and 13 introns (numbered in red) for a minimum length of 43 kb. A majority of the mutations for aHUS and other diseases are located primarily in the four CCPs. Note also that a risk haplotype, MCPggaac (boxed), has been suggested to lie within the promoter region (see text). Black, aHUS mutations; blue, aHUS and other diseases; green, non-aHUS disease (see text). # indicates the mutation has not yet been published. Note that there is inconsistency in the literature for CD46 mutant numbering. Some published mutations do not count the SP or all STP exons. In this review, we follow the recommendations of the Human Genome Variation Society and include the SP and all exons. For the sake of uniformity, older published mutant numbers may have been updated. For original mutation citations, see Ref. [6] and as indicated in text.