Table 1.
Clinical features and hemodynamic parameters of patients.
Figure 1.
Total percentage of nucleotide changes found in this study for the analyzed genes.
The variations that appear in greater proportion are missense, followed by those located in the intronic region.
Table 2.
Missense changes found in the coding region of the BMPR2, ACVRL1 and KCNA5 genes and their classification according to three different computer algorithms (PolyPhen-2, Pmut and SIFT).
Table 3.
Results from four different bioinformatic programs used to predict the effect on the splicing process in BMPR2 gene (NNSplice, NetGene2, Splice View and HSF Human).
Table 4.
Results from four different bioinformatic programs used to predict the effect on the splicing process in ACVRL1 gene (NNSplice, NetGene2, Splice View and HSF Human).
Table 5.
Results from four different bioinformatic programs used to predict the effect on the splicing process in KCNA5 gene (NNSplice, NetGene2, Splice View and HSF Human).
Figure 2.
Frequency of pathological mutations found in our patients (blue all patients, yellow IPAH, purple APAH).
BMPR2 showed the greatest number of mutations.
Table 6.
List of patients with several pathogenic mutations in the studied genes.