Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants

✍ Scribed by Thomas Höhler; Marina Botto; Christian Rittner; Peter M. Schneider; Karl-Hermann Meyer zum Büschenfelde

• Book ID: 104659651
• Publisher: Springer
• Year: 1995
• Tongue: English
• Weight: 401 KB
• Volume: 96
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00197408

✦ Synopsis

Complement component 3 (C3)

is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could identify the molecular basis of a C3"S025 variant. The decreased electrophoretic mobility of this protein is caused by the exchange of a neutral serine residue to an arginine residue (positively charged). This exchange is unlikely to have functional consequences as it maps to the C-terminus of the (x-chain. C3 variants appear to have originated from various independent mutations as we could not detect this mutation in different allotypes.