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factor IX San Dimas
substitution of Glu for Arg at position 4 in the propeptide leads to incomplete gamma-carboxylation & altered phospholipid binding properties
Also Known As:
San Dimas factor IX
Networked:
1
relevant articles (
0
outcomes,
0
trials/studies)
Bio-Agent Context: Research Results
Enzymes and Coenzymes: 1
Enzyme Precursors: 724
Factor IX: 1840
factor IX San Dimas: 1
Amino Acids, Peptides, and Proteins: 1
Proteins: 484843
Blood Proteins: 12459
Blood Coagulation Factors: 5376
Factor IX: 1840
factor IX San Dimas: 1
Protein Precursors: 37
Enzyme Precursors: 724
Factor IX: 1840
factor IX San Dimas: 1
Biological Factors: 2472
Blood Coagulation Factors: 5376
Factor IX: 1840
factor IX San Dimas: 1
Related Diseases
1.
Hemophilia B (Haemophilia B)
07/05/1989 - "
DNA sequence analysis of the Factor IX gene from a hemophilia B patient (98% Factor IX antigen; less than 0.01 unit/ml clotting activity) has identified a point mutation in exon II. A guanine to adenine transition causes the substitution of a glutamine codon for an arginine codon at -4 in the propeptide of Factor IX. This variant, termed Factor IX San Dimas, circulates in the plasma as proFactor IX with a mutant 18-amino acid propeptide still attached.
"
Related Drugs and Biologics
1.
Guanine
2.
Glutamine (L-Glutamine)
3.
Factor IX (Coagulation Factor IX)
4.
Codon (Codons)
5.
Arginine (L-Arginine)
6.
Antigens
7.
Adenine
8.
Acids