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As most mutations in functional regions are likely to impair function, they will tend to be eliminated by natural selection.
Our study reports new mutations in functional regions of HA that might provide markers for vaccine design or can be used to predict isolates of pandemic potential.
In addition, mutations in functional processed pseudogenes can cause disease.
Missense mutations in functional domains of the gene can result in an earlier age at onset.
We compared the EMSA results to effects of the same mutations in functional mutant-CAT clone transfection assays.
In this work protein variants characterized by mutations in functional domains of SBE enzyme have been identified and analyzed by bioinformatic tools able to predict the effect of the amino acid substitution on protein structure and functionality.
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Analysis of four independent databases reveals that a considerable fraction of mutation in functional genes can be described by a few CMCs regardless of gene identity or population stratification in the genotyping experiment.
Mutation carriers had short telomeres when adjusted for age, suggesting that the mutations resulted in functional deficits in telomere maintenance.
Mutations identified in functional genomics populations and association mapping panels can be aligned with QTL regions to facilitate fine mapping and validation of gene phenotype associations.
Our data suggest that in some but not all cases, aaRS mutations occur in functional and structural sectors where they can manifest their pathological effects by altering enzyme activity or causing structural instability.
Thus, although prior information is usually helpful in placing new candidate mutations in a functional context, the interactions we inferred represent a de novo model of enhancement or suppression with functional implications.
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