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Fig. 5 | Human Genomics

Fig. 5

From: Complement regulator CD46: genetic variants and disease associations

Fig. 5

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 mature protein consists of four complement control protein (CCP) repeats that house the sites for regulatory activity. This is followed by an alternatively spliced region for O-glycosylation (segments A, B, C), a segment of undefined function (U), a transmembrane domain (TM), and one of two alternatively spliced cytoplasmic tails (CYT-1 or CYT-2). The gene consists of 14 exons and 13 introns for a minimum length of 43 kb. A majority of mutations for aHUS and for other disorders (such as systemic sclerosis, systemic lupus erythematosus, and pregnancy-related disorders) occur in the four CCPs. Black, aHUS mutations; red, aHUS and other diseases; green, non-aHUS disease

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