Fig. 1
From: EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension
Functional assessment of splice site mutation. The top level displays the location of the exons 36-39 of the EIF2AK4 gene within the genome including intronic sequences. The mutation (c.4892+1G>T) is indicated by the red arrow. The second level displays copy DNA (cDNA) generated by a reverse transcriptase from extracted messenger RNA. A) shows the intact sequence and PCR product if no mutation is present, including exon 38. B) displays the effect of the mutation leading to a loss of exon 38. Exon sizes are proporational to their respective number of amino acids