Figure 2.

Proteomic and genomic organization of perforin. Linear representation of matured perforin protein illustrating the various domains and amino acids of this molecule (A). Diagram of PRF1 indicating the nucleotide position of each exon, indicated by number above the diagram. Amino acids encoded by the respective exons are indicated by number below diagram. Mutations found in human populations, as reported in the literature, are listed below each corresponding exon (B). This list is not exhaustive of all PRF1 SNVs identified.