Fig. 5: Location and predicted functional impact of mutations in CREBBP and STAT6.

The protein sequence is shown along the x-axis with protein domains marked by colored boxes. The left legend shows the color-coded full name of the domains when full names are abbreviated in the protein depiction. Each circle corresponds to a specific mutation with the height of the circle on the y-axis representing the number of occurrences of that mutation in the studied cases. The color of the dot corresponds to the predicted functional impact of the mutation (top right box).