Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency

Coagulation Factor X (FX), often termed Stuart-Prower Factor, is a plasma glycoprotein composed of the γ-carboxyglutamic acid (Gla) domain, two epidermal growth factor domains (EGF-1, EGF-2) and the serine protease (SP) domain. FX plays a pivotal role in the coagulation cascade, activating thrombin...

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Autores principales:	Victoria Anne Harris, Weining Lin, Stephen J Perkins
Formato:	article
Lenguaje:	EN
Publicado:	Georg Thieme Verlag KG 2021
Materias:	Diseases of the circulatory (Cardiovascular) system RC666-701
Acceso en línea:	https://doaj.org/article/1e2a4c2c89a245bdb76ed39dac35d95a
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spelling	oai:doaj.org-article:1e2a4c2c89a245bdb76ed39dac35d95a2021-11-24T00:01:54ZAnalysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency2512-946510.1055/a-1704-0841https://doaj.org/article/1e2a4c2c89a245bdb76ed39dac35d95a2021-11-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.1055/a-1704-0841https://doaj.org/toc/2512-9465Coagulation Factor X (FX), often termed Stuart-Prower Factor, is a plasma glycoprotein composed of the γ-carboxyglutamic acid (Gla) domain, two epidermal growth factor domains (EGF-1, EGF-2) and the serine protease (SP) domain. FX plays a pivotal role in the coagulation cascade, activating thrombin to promote platelet plug formation and prevent excess blood loss. Genetic variants in FX disrupt coagulation and lead to FX or Stuart-Prower Factor deficiency. To better understand the relationship between FX deficiency and disease severity, an interactive FX variant database has been set up at https://www.factorx-db.org, based on earlier websites for the Factor XI and IX coagulation proteins. To date (April 2021), we report 427 case reports on FX deficiency corresponding to 180 distinct F10 genetic variants. Of these, 149 are point variants (of which 128 are missense), 22 are deletions, three are insertions and six are polymorphisms. FX variants are phenotypically classified as being Type I or Type II. Type I variants involve the simultaneous reduction of FX coagulant activity (FX:C) and FX antigen levels (FX:Ag), whereas Type II variants involve a reduction in FX:C with normal FX:Ag plasma levels. Both types of variants were distributed throughout the FXa protein structure. Analyses based on residue surface accessibilities showed the most damaging variants to occur at residues with low accessibilities. The interactive FX web database provides a novel easy-to-use resource for clinicians and scientists to improve the understanding of FX deficiency. Guidelines are provided for clinicians who wish to use the database for diagnostic purposes.Victoria Anne HarrisWeining LinStephen J PerkinsGeorg Thieme Verlag KGarticleDiseases of the circulatory (Cardiovascular) systemRC666-701ENTH Open (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the circulatory (Cardiovascular) system RC666-701
spellingShingle	Diseases of the circulatory (Cardiovascular) system RC666-701 Victoria Anne Harris Weining Lin Stephen J Perkins Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency
description	Coagulation Factor X (FX), often termed Stuart-Prower Factor, is a plasma glycoprotein composed of the γ-carboxyglutamic acid (Gla) domain, two epidermal growth factor domains (EGF-1, EGF-2) and the serine protease (SP) domain. FX plays a pivotal role in the coagulation cascade, activating thrombin to promote platelet plug formation and prevent excess blood loss. Genetic variants in FX disrupt coagulation and lead to FX or Stuart-Prower Factor deficiency. To better understand the relationship between FX deficiency and disease severity, an interactive FX variant database has been set up at https://www.factorx-db.org, based on earlier websites for the Factor XI and IX coagulation proteins. To date (April 2021), we report 427 case reports on FX deficiency corresponding to 180 distinct F10 genetic variants. Of these, 149 are point variants (of which 128 are missense), 22 are deletions, three are insertions and six are polymorphisms. FX variants are phenotypically classified as being Type I or Type II. Type I variants involve the simultaneous reduction of FX coagulant activity (FX:C) and FX antigen levels (FX:Ag), whereas Type II variants involve a reduction in FX:C with normal FX:Ag plasma levels. Both types of variants were distributed throughout the FXa protein structure. Analyses based on residue surface accessibilities showed the most damaging variants to occur at residues with low accessibilities. The interactive FX web database provides a novel easy-to-use resource for clinicians and scientists to improve the understanding of FX deficiency. Guidelines are provided for clinicians who wish to use the database for diagnostic purposes.
format	article
author	Victoria Anne Harris Weining Lin Stephen J Perkins
author_facet	Victoria Anne Harris Weining Lin Stephen J Perkins
author_sort	Victoria Anne Harris
title	Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency
title_short	Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency
title_full	Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency
title_fullStr	Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency
title_full_unstemmed	Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency
title_sort	analysis of 180 genetic variants in a new interactive fx variant database reveals novel insights into fx deficiency
publisher	Georg Thieme Verlag KG
publishDate	2021
url	https://doaj.org/article/1e2a4c2c89a245bdb76ed39dac35d95a
work_keys_str_mv	AT victoriaanneharris analysisof180geneticvariantsinanewinteractivefxvariantdatabaserevealsnovelinsightsintofxdeficiency AT weininglin analysisof180geneticvariantsinanewinteractivefxvariantdatabaserevealsnovelinsightsintofxdeficiency AT stephenjperkins analysisof180geneticvariantsinanewinteractivefxvariantdatabaserevealsnovelinsightsintofxdeficiency
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Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency

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