학술논문
A novel p.Pro353His SERPINC1 mutation in the thrombin‐binding region affecting stability of Antithrombin molecule in an extended Omani family.
Document Type
Article
Author
Source
Subject
*THERAPEUTIC use of protease inhibitors
*DNA analysis
*BINDING sites
*BLOOD diseases
*COMPUTER software
*DRUG stability
*FIBRIN
*IMMUNOASSAY
*LIVER blood-vessels
*GENETIC mutation
*PROLINE
*PULMONARY embolism
*THROMBIN
*THROMBOSIS
*PHENOTYPES
*PROTEASE inhibitors
*SEQUENCE analysis
*GENOTYPES
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Language
ISSN
1751-5521
Abstract
The article presents a study to evaluate whether p.Pro353His SERPINC1 mutation in the thrombin-binding region affects stability of Antithrombin molecule. It mentions that in p.Pro353His mutation, proline is replaced by histidine which has different polarity and thus affects protein stability resulting in total energy change. It further mentions that type II mutation p.Pro353Leu has been reported earlier that is characterized by low Antithrombin activity but normal antigen levels.