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.
Pavithra M. Rallapalli
Stephen J. Perkins
Dr Dan Hampshire D.Hampshire@hull.ac.uk
Lecturer in Genetics
Christopher A. Ludlam
John H. McVey
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.
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|
|Deposit Date||Jul 22, 2020|
|Publicly Available Date||Jul 22, 2020|
|Peer Reviewed||Peer Reviewed|
|Keywords||blood coagulation disorders; factor VII deficiency; genetic variation; hemostasis; LSDB; Genetics (clinical); Genetics|
|Additional Information||Received: 2020-01-31; Accepted: 2020-04-13; Published: 2020-04-29|
Publisher Licence URL
© 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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