6533b7cffe1ef96bd1258646
RESEARCH PRODUCT
Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants.
Peter M. SchneiderCh. RittnerK H Meyer Zum BüschenfeldeThomas HöhlerMarina Bottosubject
GeneticsComplement component 3biologyBase SequenceGenetic heterogeneityMolecular Sequence DataComplement C3Molecular medicinePolymerase Chain Reactionlaw.inventionComplement systemSerineGenetic HeterogeneitylawGeneticsbiology.proteinHumansGeneGenetics (clinical)Polymerase chain reactionPolymerasePolymorphism Single-Stranded Conformationaldescription
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 alpha-chain. C3 variants appear to have originated from various independent mutations as we could not detect this mutation in different allotypes.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1995-11-01 | Human genetics |