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The first mutation is a single base mutation, resulting in a glutamic acid to lysine change at position 69.
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This 2 base mutation resulted in a 90% decrease in promoter expression, similar to levels obtained with the 21 bp IΔ5 deletion (Fig. 2B).
When certain single base mutations result in profound changes in conformational behavior or molecular recognition [40], [41], a convincing mechanistic explanation is often elusive.
Over the 19 single base substitution mutations, 2 were nonsense mutations resulting in new stop codons, 12 were missense mutations resulting in single amino acid substitution, and 5 were silent mutations resulting in no amino acid change.
All of the mutants identified contained single base insertions or deletions leading to frameshift mutations, resulting in receptor truncations within the hormone-binding domain between amino acids (aa) 324-351.
However, these alignments were based on relatively large sequences with few mutations resulting in a bootstrap support that was too low for any consistent tree-topology to be inferred.
Mutations resulting in a premature stop codon either by base substitution or by frameshift were identified in nine families.
Aggressive fibromatosis harbours mutations resulting in beta-catenin protein stabilization.
Therefore, the probability of mutation in one lineage is (2) Thus the probability that the same site mutates in two different lineages is (3) And the expected number of double mutations across n sites is (4) The probability that both mutations result in the same base is approximately 1/3.
However, because not all mutations result in increased expression, we also used TP53-mutation status based on sequencing (for 204 of the 295 patients).
TFAP2A mutations result in branchio-oculo-facial syndrome.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com