Figure 3.

Distribution of coding-sequence polymorphisms in ATM and differences between chimpanzee and human. A, Location of polymorphisms and coding-sequence differences in chimpanzee compared to human. B, Location and frequency of polymorphisms observed in human ATM. The horizontal bar represents amino acid sequence of ATM from 1 to 3056. Colored and shaded regions of the amino acid sequence represent possible functional domains of the molecule: p53 binding (Khanna et al. 1998), leucine zipper (Morgan et al. 1997), homology to S. pombe Rad3p (Bentley et al. 1996) and S. cerevisiae Tel1p (Greenwell et al. 1995; Morrow et al. 1995), and the serine kinase domain (Zakian 1995). Ball-and-stick figures along the amino acid sequence represent amino acid positions. Circles are mapped at positions that are polymorphic either within the 93 human individuals (with the number of individuals adjacent to each circle) or within the single chimpanzee individual; diamonds represent homozygous differences between human and chimpanzee. Black circles or diamonds represent missense polymorphisms, and white circles or diamonds represent silent changes.