Fig. 1

Class 1 and class 2 HIF-2α-driven diseases are associated with different mutations. a Frequency of HIF-2α missense mutations across the primary amino acid sequence. An inset of amino acids 515-550 is provided. b The majority of HIF-2α mutations are missense mutations located between amino acids 519 and 545. Residues that have been reported to be mutated are highlighted in red. The superscript indicates how often the residue has been mutated. c A Euler Diagram highlighting the proportion of unique mutations associated with each disease class. Examples of mutations associated with each disease class are listed. d A PROVEAN score was determined for each missense EPAS1 mutation. The more negative a score, the more damaging a mutation is predicted to be. A mutation with a score lower the −4.1 is predicted to be deleterious with high specificity. Error bars indicate SD