Title : Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

Pub. Date : 1988 Aug 9

PMID : 3191114






3 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 Proline-407 is located 14 amino acids C-terminal to the reactive site arginine of ATIII in a core region of the molecule that has been highly conserved during evolution of the serine protease inhibitor (serpin) gene family. Proline serpin family C member 1 Homo sapiens
2 The location of this proline in the crystal structure of the homologous serpin alpha 1-antitrypsin suggests that the leucine substitution in ATIII-Utah may interfere with correct folding of the mutant gene product, leading to its rapid turnover and the low antithrombin levels observed in patient plasmas. Proline serpin family C member 1 Homo sapiens
3 The location of this proline in the crystal structure of the homologous serpin alpha 1-antitrypsin suggests that the leucine substitution in ATIII-Utah may interfere with correct folding of the mutant gene product, leading to its rapid turnover and the low antithrombin levels observed in patient plasmas. Proline serpin family C member 1 Homo sapiens