Figure 3

Location of the identified mutations in the genes BMPR2, ACVRL1, and ENG. The figure shows the location of all identified mutations in the investigated genes. Larger deletions are shown as line above the genomic gene region, point mutations (nonsense and missense), splice site mutations, frameshift mutations and small deletions are marked as arrows. The green arrow denotes the BMPR2 sequence variant which was classified as mutation but could represent a mutation or non-deleterious polymorphism. Boxes represent exons, and the colours of the boxes represent the different domains.