Figure 1.
Domain Organization of ATM and Case-Control Distribution of Missense Substitutions by Align-GVGD Grade
(A) Distribution of rare C0, C15, and C25 missense substitutions superimposed on the domain organization of ATM. Note that if two distinct substitutions are located very close to each other, we shifted one by a few amino acids so that the presence of both is visible.
(B) Distribution of rare C35, C45, C55, and C65 missense substitutions. We labeled the C65 missense substitutions falling from Ile1960 until the end of the protein.
(C) Sequence-conservation profile across ATM. The fraction of invariant positions (GV = 0) across the ATM protein multiple sequence alignment was measured in a 20-residue sliding window. Results were smoothed by inclusion of (1/e × sequence invariance) in the ten residues preceding and trailing each window, then normalized. The analysis was repeated with the use of a conservation criterion of only conservative substitution or invariance (GV < 65) across species.
Citations correspond to Fernandes et al.,91 Lim et al.,92 Shafman et al.,93 and Khanna et al.94