A larger proportion of COSMIC mutations have very low B-SIFT scores, suggesting that many COSMIC mutations are functionally deleterious.
The Y766F and Y766A mutations have very little effect on the T +1)2-AP fluoresignalssignals from the majority of ternary complexes in step 2.1.
The 22 patients with and 11 without detectable SMARCAL1 mutations have very similar clinical features (Table 1; Supplementary Tables 1 and 2) and similar disease severity scores, which we calculated as previously described [ 7].
In general, organisms are well adapted to their living environments, so only a few changes lead to fitness increases and these beneficial mutations have very small effects [ 32, 34, 35, 37].
However, several classes of is-mutations had very pronounced phenotypes.
Accordingly, under high temperatures (32°CC), the tcd10 mutation has very little effect on the associated-genes for Chl biosynthesis, photosynthesis and chloroplast development, consistent with the normal phenotype in tcd10 mutants at 32 °C.
Unlike Y766A, the conservative Y766F mutation has very little effect on the kinetics of fingers closing.
The site for Leu626Gln mutation has very high structural conservation (>80%) indicating that substitution at this site might perturb DRS structure.
However, the mutations all had very marked effects on kcat, with mutant H216N having a kcat that was ∼1% of that of wild-type RePC and those of E218Q and E305A being ∼2%.
The number of point mutations seen increased slightly with deletion size, but even the largest deletion (403 aa) had very few consensus mutations.
