In our view, the fact that INH resistance in both Lisboa3 and Q1 clades is associated with inhA mutations, instead of the of the more usual KatG mutations, is possibly related with selective pressures exerted by the drug regimen itself.
This dominant role of CsrS is the first important observation in this study, and its mutation is possibly more important than that of csrR in terms of etiopathogenesis of human severe invasive diseases.
Therefore, the mutation is possibly damaging.
PolyPhen2 showed that the mutation was possibly damaged with a score of 0.041 (sensitivity: 0.94; specificity: 0.83), which is predicted to be benign.
Sarcolemmal caveolin-3 impairment secondary to the PTRF mutation is possibly at cause of the distinctive muscle phenotype observed in this subtype of BSCL.
In regard to the recessive inheritance of the deletion identified one can hypothesise that the mutation was possibly already present more than ten years ago in the French Charolais population.
Therefore, 10 points (out of a maximum score of 20 points) was applied to the scoring criteria of the mitochondrial tRNA mutations listed in MITOMAP, which indicated that the m.602C>T mutation is possibly pathogenic [ 23].
In the longer construct, the mutation is possibly not strong enough to disrupt the complete interaction and just interferes with the proper ubiquitin orientation for chain formation or a second ubiquitin interaction site may be present elsewhere outside the LDD.
Proband 1195, who was classified as an attenuated FAP case, was found to carry a novel mutation (c.340delC), located on codon 114 of exon 3. The specific mutation is possibly de novo, since both proband's parents deceased at their late seventies, with no apparent FAP clinical symptoms; no genetic material of the parents was available.
We proposed that mutation rate variations are possibly linked to species longevity through the action of natural selection: too high a mutation rate would be deleterious in long-lived mammals because it could result in premature aging due to the accumulation of somatic mtDNA mutations [ 14], see also [ 15- 17].
