C4A
Gene name: complement component 4AOMIM ID: 120810
Chromosome location: 6p21.33
Mutations
| Disease/Phenotype | Complement C4a defiency |
|---|---|
| Reference transcript | NM_007293.2 |
| DNA Change | c.1675C>T |
| A.A. Change | p.Arg559X |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Wu YL, Hauptmann G, Viguier M, Yu CY.Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus. Genes Immun. 2009 Jul;10(5):433-45. |