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Molecular defect of ‘Prothrombin Amrita’: Substitution of arginine by glutamine (Arg553 to Gln) near the Na+ binding loop of prothrombin

Publication Type : Journal Article

Thematic Areas : Nanosciences and Molecular Medicine

Publisher : Blood Cells, Molecules, and Diseases

Source : Blood Cells, Molecules, and Diseases, Volume 50, Number 3, p.182-183 (2013)

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Keywords : adult, amino acid substitution, arginine, binding site, case report, crystal structure, deep vein thrombosis, DNA restriction, gene, gene sequence, genetic association, genetic variability, genomic DNA, glutamine, heterozygote, human, Humans, letter, male, middle aged, missense mutation, Mutation, nucleic acid amplification, point mutation, polymerase chain reaction, priority journal, Protein Binding, prothrombin, prothrombin gene, single nucleotide polymorphism, Sodium, sodium ion, Venous Thrombosis

Campus : Kochi

School : Center for Nanosciences

Center : Nanosciences, Amrita Center for Nanosciences and Molecular Medicine Move

Department : Nanosciences, Nanosciences and Molecular Medicine

Verified : Yes

Year : 2013

Abstract : Prothrombin, the precursor to thrombin, is a serine protease that plays a key role in hemostasis and thrombosis. Several studies have reported mutations resulting from the deletion, substitution, or insertion of a single nucleotide in the prothrombin gene that lead to hypoprothrombinemia, dysprothrombinemia, or thrombosis [1]. One of the most common genetic variations predisposing to deep venous thrombosis is a polymorphism in the factor V gene (Arg506Gln) resulting in the factor V Leiden mutation. Transition of guanine to adenine at nucleotide position 20210 in the 3′ untranslated region of the prothrombin gene is the second most common genetic risk factor for venous thrombosis, which we diagnose in approximately 50 patients annually in Amrita hospital. Several other mutations in the prothrombin gene that are associated with the thrombosis have been reported. The eponym of some of the prothrombin point mutations identified globally are — Padua (Arg271 to His), Corpus Christi (Arg382 to Cys), Obhiro (Arg271 to Cys), Barcelona (Arg273 to Cys), San Antonio (Arg320 to His), Himi (Met337 to Thr and Arg388 to His), Denver (Arg457 to Gln), Dhahran (Arg271 to His), Clamart (Arg320 to Ile), Segovia (Gly319 to Arg), Vellore 1 (Ala362 to Thr), Perijaá (Gly548 to Ala), Himi (Arg388 to His and Met337 to Thr), Habana, Poissy, Houston, Salakta, Thrombin Greenvillae (Arg517 to Gln), etc.

Cite this Research Publication : S. Sivasundar, Oommen, A. T., Prakash, O., Baskaran, S., Dr. Raja Biswas, Nair, S., Dr. Gopi Mohan C., and Lalitha Biswas, “Molecular defect of 'Prothrombin Amrita': Substitution of arginine by glutamine (Arg553 to Gln) near the Na+ binding loop of prothrombin”, Blood Cells, Molecules, and Diseases, vol. 50, pp. 182-183, 2013.

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