Giansily‐Blaizot, M; Rallapalli, PM; Perkins, SJ; Kemball‐Cook, G; Hampshire, DJ; Gomez, K; Ludlam, CA; Giansily‐Blaizot, M; Rallapalli, PM; Perkins, SJ; Kemball‐Cook, G; Hampshire, DJ; Gomez, K; Ludlam, CA; McVey, JH; - view fewer (2020) The EAHAD blood coagulation factor VII variant database. Human Mutation 10.1002/humu.24025. (In press).

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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.

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