CD19
Gene name: CD19 moleculeOMIM ID: 107265
Chromosome location: 16p11.2
Mutations
| Disease/Phenotype | Immunodeficiency, common variable, 3 |
|---|---|
| Reference transcript | NM_001770.5 |
| DNA Change | c.156G>C |
| A.A. Change | p.W52C |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | van Zelm MC, Smet J, van der Burg M, Ferster A, Le PQ, Schanden? L, van Dongen JJ, Mascart F.Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation. Hum Mol Genet. 2011 May 1;20(9):1854-63. |
| Disease/Phenotype | Immunodeficiency, common variable, 3 |
|---|---|
| Reference transcript | NM_001770.5 |
| DNA Change | c.1653_167119del28pbins23pb |
| A.A. Change | p.G551GfsX25 |
| Exon/Intron | exon 14 |
| Mutation Type | indel |
| Reference | Vince N, Boutboul D, Mouillot G, Just N, Peralta M, Casanova JL, Conley ME, Bories JC, Oksenhendler E, Malphettes M, Fieschi C; DEFI Study Group.Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency. J Allergy Clin Immunol. 2011 Feb;127(2):538-541. |