Sentence examples for mutation or an from inspiring English sources

Retention of the C-terminal region 428 483 was critical for the binding of conformation-specific Mabs (H16:V5, H16 E70, H16 U4 and H16:9A) whereas deletion of the nuclear localisation signal (NLS) or the C428G mutation or an N-terminal deletion (residues 2 9) did not affect the antigenicity.

The mouse reference genome has at least 21 distinct Mup genes (with open reading frames), and a further 21 Mup pseudogenes (with reading frames disrupted by a nonsense mutation or an incomplete gene duplication).

A practical consequence of redundancy is that errors in the third position of the triplet codon cause only a silent mutation or an error that would not affect the protein because the hydrophilicity or hydrophobicity is maintained by equivalent substitution of amino acids; for example, a codon of NUN (where N = any nucleotide) tends to code for hydrophobic amino acids.

Surprisingly, the patient's measurable and perceived disabilities did not differ according to disease classification or presence or absence of the D816V KIT mutation or an elevated (≥20 ng/mL) serum tryptase level.

Isolates with PFGE patterns that differ from each other by two to three bands were considered clonally related, as this pattern is consistent with a single genetic event, i.e. a point mutation or an insertion or deletion of the DNA.

However, as shown in Figure 5B, the csrS genes of all clinically isolated severe invasive GAS had a deletion, a point mutation, or an insertion, thereby, resulting in the creation of translational stop codons (NIH147, NIH226, NIH230, and NIH269) or in a mutation in the presumed kinase domain (NIH200).

As a genetic counselor, it is always challenging to tell the patient sitting in front of you that she carries a genetic mutation (or, a pathogenic variant, as it is now called) that could negatively impact her health.

So just because a baby has a particular mutation or a fetus has a particular mutation, in some cases it may not necessarily manifest the disease.

The cystic fibrosis gene is actually a defective normal gene that has been inactivated by a mutation or a deletion of part of the gene.

Because each parent, as a silent carrier, contributes one mutated gene, many children with the disease have two separate defects — for example, a misshapen CFTR mutation and a nonsense mutation, or a misshapen CFTR and a rusty-gate type of mutation.

Because each parent, as a silent carrier, contributes one mutated gene, many children with the disease have two separate defects for example, a misshapen CFTR mutation and a nonsense mutation, or a misshapen CFTR and a rusty-gate type of mutation.