PMC6069878_01
a Structure of novel and processed factor VIII protein. Signalling peptide (SP), novel mutation marked by star. b Identification of relevant variant by several filtering steps. c Section of the F8 gene, mRNA and factor VIII amino acid (AA) sequence with affected bases and AA high-lighted showing the resulting deletion in the Factor VIII molecule. d AA position examined for conservation in human, gorilla, mouse, rat, cow, dog, pig, chicken, oppossum, and zebrafish F8 using the publicly available multiple-sequence alignment (http://www.factorviii-db.org/sequence.html.php)
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PMC6069878_01_12878_2018_113_Fig1_HTML.jpg
Fig1
Therefore, one variant (c.5411_5412delTCT, p.F1804del) remained a potential cause of disease (Fig. 1b). The mutation was verified in the raw BAM file (Additional file 1: Figure S1).