Fig. 2.

Distribution of the 272 variants found in the F11 gene. The panels (a-c) indicate breakdowns of the 272 FXI variants into variant type, effect and location within the F11 gene sequence. The charts illustrated here distinguish the non-disease associated polymorphisms from the disease-associated genetic variants. (a) The relative frequency of five different types of unique variants in the F11 gene. (b) Effect of the 200 point variants found in the F11 gene sequence. (c) Distribution of the 272 FXI variants across the F11 gene sequence and FXI protein domains. Note, the variant in the undefined category is a 31.5 kb deletion that cannot be assigned to a single domain/region.