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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Human complement component C8. Molecular basis of the beta-chain polymorphism.

The beta-chain of human complement component C8 exhibits a structural genetic polymorphism: using isoelectric focusing two major allotypes can be identified (C8B B ('basic') and C8B A ('acidic')). In the present report we describe a sequence polymorphism of the C8B gene (codon 63: AGA-->GGA) and demonstrate that the resulting amino acid substitution (Arg-->Gly) consistently differentiates between the two common charge variants of the C8 beta chain; the C8B B allotype is characterized by an Arg and the C8B A allotype by a Gly residue in position 63 of the C8 beta polypeptide chain.[1]

References

  1. Human complement component C8. Molecular basis of the beta-chain polymorphism. Dewald, G., Hemmer, S., Nöthen, M.M. FEBS Lett. (1994) [Pubmed]
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