A nucleotide insertion and frameshift cause albumin Kénitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges

European Journal of Biochemistry

Volumn 268, Issue 2, 2001, Pages 344-352

  Minchiotti, Lorenzo ^a   Campagnoli, Monica ^a   Rossi, Antonio ^a   Cosulich, Maria E ^a   Monti, Maria ^b   Pucci, Piero ^b   Kragh Hansen, Ulrich ^c   Granel, Brigitte ^d   Disdier, Patrick ^d   Weiller, Pierre Jean ^d   Galliano, Monica ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c AARHUS UNIVERSITY   (Denmark)

^d TIMONE HOSPITAL   (France)

Author keywords

Disulfide bridges; Extended genetic variant; Frameshift; Human serum albumin; O glycosylation

Indexed keywords

ADENINE; CYSTEINE; DISULFIDE; HUMAN SERUM ALBUMIN; NUCLEOTIDE; OLIGOSACCHARIDE; POLYACRYLAMIDE GEL; POLYPEPTIDE;

ANION EXCHANGE CHROMATOGRAPHY; ARTICLE; CODON; DNA STRUCTURE; EXON; GENETIC VARIABILITY; GENOME; GLYCOSYLATION; MASS SPECTROMETRY; MUTANT; PRIORITY JOURNAL; PROTEIN ISOLATION; PURIFICATION; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SEQUENCE ANALYSIS; TWO DIMENSIONAL ELECTROPHORESIS;

EID: 0034831516     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1033.2001.01899.x     Document Type: Article

References (31)

1. All about albumin
2. A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxi-naemia
3. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families
4. A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred
5. Familial dysalbuminemic hypertriiodothyroninemia: A new, dominantly inherited albumin defect
6. Structural characterization, stability and fatty acid binding properties of two French genetic variants of human serum albumin
7. Albumin Banks Peninsula: A new termination variant characterised by electrospray mass spectrometry
8. High-affinity binding of laurate to naturally occurring mutants of human serum albumin and proalbumin
9. Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin
10. Structural characterization of four genetic variants of human serum albumin associated with alloalbuminemia in Italy
11. Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene
12. Structural characterization of three genetic variants of human serum albumin modified in subdomains IIB and IIIA
13. Structural characterization of a chain termination mutant of human serum albumin
14. A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin
15. Genetic variants of human serum albumin in Italy: Point mutants and a carboxyl-terminal variant
16. The molecular defect in a COOH-terminal-modified and shortened mutant of human serum albumin
17. Albumin Rugby Park: A truncated albumin variant caused by a G → C splice-site mutation in intron 13
18. Structural study of the glycosylated and unglycosylated forms of a genetic variant of human serum albumin (63Asp!Asn)
19. Albumin Redhill (-1Arg, 320Ala→Thr): A glycopro-tein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site
20. Structural characterization of a glycoprotein variant of human serum albumin: Albumin Case-brook (494 Asp→Asn)
21. Une nouvelle bisalbuminémie: La bisalbumine Kénitra
22. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4
23. A nucleotide insertion and frameshift cause analbuminemia in an Italian family
24. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
25. Structures and immunochemical properties of oligosaccharides isolated from pig submaxillary mucin
26. Preparation and desorption mass spectrometry of permethyl and peracetyl derivatives of oligosaccharides
27. On the mechanism of the antifibrinolytic activity of plasma carboxy-peptidase B
28. NetOglyc: Prediction of mucin type O-glycosylation sites based on sequence context and surface accessibility
29. Glycosylation sites identified by detection of glycosylated amino acids released from Edman degradation: The identification of Xaa-Pro-Xaa-Xaa as a motif for Thr-O-glycosylation
30. Structure of serum albumin
31. SOPMA: Significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments