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Human complement component C8
Author(s) -
Dewald Georg,
Hemmer Susanne,
Nöthen Markus M.
Publication year - 1994
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(94)80140-1
Subject(s) - allotype , isoelectric focusing , polymorphism (computer science) , chemistry , gene , residue (chemistry) , amino acid substitution , peptide sequence , genetics , biochemistry , biology , microbiology and biotechnology , genotype , mutation , enzyme
The β‐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 C8β chain; the C8B B allotype is characterized by an Arg and the C8B A allotype by a Gly residue in position 63 of the C8β polypeptide chain.