Thus, we provisionally conclude that multiple slow acetylator mutations contribute an excess polymorphism to the NAT2 coding sequence.
For instance, in every generation, de novo mutations contribute a mass 2 N1 uδ(x1−1/2 N1) to φ (x 2 = 0 ) B (x 1, t ) and a mass 2 N2 uδ(x2−1/2 N2) to φ (x 1 = 0 ) B (x 2, t ), where u is the mutation rate.
Given that there is a 12% population lifetime risk, deleterious common mutations contribute a 24%36%% lifetime risk, which may be high enough to instigate earlier and more intensive screening for common genetic forms of the disease.
In Figure 6, we have also added several subplots that show more clearly that in our model deleterious mutations contribute a substantial fraction of fitness variance in the viral population.
This distribution of deleterious mutation loads on the simulated phylogeny is consistent with the excess number of non-synonymous substitutions on external tree branches that was found for human influenza A/H3N2 (Fitch et al., 1997; Pybus et al., 2007) and arises because deleterious mutations contribute a substantial fraction of the fitness variance in the viral population.
By contrast, for our α, β and δ subunit receptors, the shifts appeared more consistent, with each mutation contributing an approximately fourfold increase in GABA sensitivity.
p.Thr2250Met mutation in homozygosity and in combination with SEC63 gene mutations contributed to severe phenotype in a patient with hepatic cysts in comparison with his relatives who had p.Thr2250Met mutation in heterozygous state [ 16].
Both of the gp120 mutations contributed to the drug sensitivity.
Clearly, as yet unidentified additional mutations contributed to the small plaque phenotype of Yar 46-2 (D67G).
Among 13 patients with drug resistance, 5 (38%) had mutations contributed to only NRTI resistance; 1 (8%) had mutations contributed to only NNRTI resistance; and 7 (54%) patients had mutations contributed to both NRTI and NNRTI resistance.
