Figure 5.

Frequency of disease-related SRVs, depending on the wild type residue and the exposure state in HVARSEQ. Here, buried and exposure states of each residue position have been predicted using the method described in Section Analyzing distributions of variated wild-type residues in the sequence database. P_D: the probability of a wild-type residue (position) to be disease associated in the HVARSEQ dataset [see Equation (1)]. P_D|R: the conditional probability of being disease related when variated, given a wild-type residue [see Equation (2)]. P_D|B,R: the conditional probability of a wild-type residue to be disease related upon variation when buried [see Equation (3)]. P_D|E,R: the conditional probability of a wild-type residue R to be disease related upon variation when exposed [see Equation (4)].