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The EAHAD blood coagulation factor VII variant database

Giansily‐Blaizot, Muriel, Rallapalli, Pavithra M., Perkins, Stephen J., Kemball‐Cook, Geoffrey, Hampshire, Daniel J., Gomez, Keith, Ludlam, Christopher A. and McVey, John H. (2020) The EAHAD blood coagulation factor VII variant database Human Mutation.

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Abstract

Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7). Integration of genetic variation with functional consequences on protein function is essential for the interpretation of the pathogenicity of novel variants. Here, we describe the integration of previous locus‐specific databases for F7 into a single curated database with enhanced features. The database provides access to in silico analyses that may be useful in the prediction of variant pathogenicity as well as cross‐species sequence alignments, structural information, and functional and clinical severity described for each variant, where appropriate. The variant data is shared with the F7 Leiden Open Variation Database. The updated database now includes 221 unique variants, representing gene variants identified in 728 individuals. Single nucleotide variants are the most common type (88%) with missense representing 74% of these variants. A number of variants are found with relatively high minor allele frequencies that are not pathogenic but contribute significantly to the likely pathogenicity of coinherited variants due to their effect on FVII plasma levels. This comprehensive collection of curated information significantly aids the assessment of pathogenicity.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Biosciences and Medicine
Authors :
NameEmailORCID
Giansily‐Blaizot, Muriel
Rallapalli, Pavithra M.
Perkins, Stephen J.
Kemball‐Cook, Geoffrey
Hampshire, Daniel J.
Gomez, Keith
Ludlam, Christopher A.
McVey, John H.j.mcvey@surrey.ac.uk
Date : 2020
Funders : European Association for Haemophilia and Allied Disorders
DOI : 10.1002/humu.24025
Copyright Disclaimer : © 2020 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Uncontrolled Keywords : Blood coagulation disorders; Factor VII deficiency; Genetic variation; Hemostasis; LSDB
Depositing User : Clive Harris
Date Deposited : 18 May 2020 13:35
Last Modified : 18 May 2020 13:35
URI: http://epubs.surrey.ac.uk/id/eprint/856957

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