ALB
Gene name: albuminOMIM ID: 103600
Chromosome location: 4q13.3
Mutations
| Disease/Phenotype | Analbuminenia |
|---|---|
| Reference transcript | NM_000477.5 |
| DNA Change | c.1791_1792insA |
| A.A. Change | p.Leu599ThrfsX30 |
| Exon/Intron | exon 15 |
| Mutation Type | insertion |
| Reference | Minchiotti L, Campagnoli M, Rossi A, Cosulich ME, Monti M, Pucci P, Kragh-Hansen U, Granel B, Disdier P, Weiller PJ, Galliano M.A nucleotide insertion and frameshift cause albumin K?nitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges. Eur J Biochem. 2001 Jan;268(2):344-52. |
| Disease/Phenotype | Analbuminenia |
|---|---|
| Reference transcript | NM_000477.5 |
| DNA Change | c.802G>T |
| A.A. Change | p.Glu268X |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Campagnoli M, Sala A, Romano A, Rossi A, Nauta J, Koot BG, Minchiotti L, Galliano M.Novel nonsense mutation causes analbuminemia in a Moroccan family. Clin Chem. 2005 Jan;51(1):227-9. |