Fig. 1

Fig. 1 Identification of HOXA1 variants in index cases with BAV.

a Schematic representation of the human HOXA1 gene and corresponding predicted protein. The HOXA1 protein contains the histidine repeat motif (green; amino acids 65–74), the hexapeptide motif involved in the interaction with PBX proteins (blue; amino acids 204–209), encoded in exon 1, and the DNA-binding homeodomain (HD; yellow; amino acids 229-288), encoded in exon 2. Alignment of the HOXA1 histidine repeat sequences from the human, mouse, rat, cat, cow, chicken and shark species is represented. The NCBI GenBank accession numbers that were utilized for the alignment are as follows: Human-P49639, Mouse-P09022, Rat-O08656, Cat-M3W8N7, Cow-E1B918, Chicken-R4GHI8, and Shark-C7B9D2. b Sanger sequences showing the insertion or deletion variants observed in exon 1 of HOXA1. The polymorphism c.218G>A (p.Arg73His) is shown with asterisks (black, c.218G; green, c.218G>A). We identified different variants in this region (c.[213_215dupCCA;218G>A] named +1His; c.[213_215dupCCA;218G] named +1His^Arg; c.[213_215delCCA;218G>A] named −1His and c.[207_215delCCACCACCA;218 G] named −3His^Arg) with low frequency in gnomAD (see Table 3).