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The EAHAD blood coagulation factor VII variant database

Giansily-Blaizot, Muriel; Kemball-Cook, Geoffrey; Giansily‐Blaizot, Muriel; Rallapalli, Pavithra M.; Perkins, Stephen J.; Kemball‐Cook, Geoffrey; Hampshire, Daniel J.; Gomez, Keith; Ludlam, Christopher A.; McVey, John H.

Authors

Muriel Giansily-Blaizot

Geoffrey Kemball-Cook

Muriel Giansily‐Blaizot

Pavithra M. Rallapalli

Stephen J. Perkins

Geoffrey Kemball‐Cook

Keith Gomez

Christopher A. Ludlam

John H. McVey



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.

Citation

Kemball-Cook, G., Giansily-Blaizot, M., Giansily‐Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball‐Cook, G., …McVey, J. H. (2020). The EAHAD blood coagulation factor VII variant database. Human Mutation, 41(7), 1209-1219. https://doi.org/10.1002/humu.24025

Journal Article Type Article
Acceptance Date Apr 13, 2020
Online Publication Date Apr 29, 2020
Publication Date 2020-07
Deposit Date Jul 22, 2020
Publicly Available Date Jul 22, 2020
Journal Human Mutation
Print ISSN 1059-7794
Electronic ISSN 1098-1004
Publisher Wiley
Peer Reviewed Peer Reviewed
Volume 41
Issue 7
Pages 1209-1219
DOI https://doi.org/10.1002/humu.24025
Keywords blood coagulation disorders; factor VII deficiency; genetic variation; hemostasis; LSDB; Genetics (clinical); Genetics
Public URL https://hull-repository.worktribe.com/output/3502581
Publisher URL https://onlinelibrary.wiley.com/doi/full/10.1002/humu.24025
Additional Information Received: 2020-01-31; Accepted: 2020-04-13; Published: 2020-04-29

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Publisher Licence URL
https://creativecommons.org/licenses/by/4.0/

Copyright Statement
© 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.





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