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This mutation disrupts a restriction site for endonuclease Kpn1.
This indicates that the R111G mutation disrupts a critical function of MeCP2, such that it becomes effectively a null allele.
Collectively, these data predict that the mutation disrupts a Zfhx3-dependent and canonical TTFL-independent effect on SCN circadian period.
The L241R mutation disrupts a hydrophobic cluster within a PCTP binding region in the 11th β-sheet (β11) of the predicted structure.
First, the heteroplasmic m.602C>T point mutation disrupts a conserved Watson Crick cytosine guanine (C G) base pairing within the D-stem of the mitochondrial tRNAPhe gene, which would most likely affect the stability of the secondary structure of mitochondrial tRNA (Fig. 5b).
The c.2153_2154dupAT (p.*719Ifs*10) mutation disrupts a stop codon, producing an abnormally long C-terminal region.
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By cloning alternative CD46 partial alleles into a minigene expression system which was transfected and expressed in 293 T cells, we demonstrate that this mutation disrupts an ESE, and causes the production of an aberrant CD46-TV isoform.
However, biotinylation was detected when individual cysteine residues were mutated, as predicted if a cysteine to alanine mutation disrupted a disulphide bond pairing and exposed the free cysteine binding partner (Ennion and Evans, 2002).
Homozygous flies displayed a mild rough eye phenotype; this phenotype was enhanced in the Appld hemizygous background, suggesting that the insertional mutation disrupted a gene that interacted with Appl.
The specific genetic cause of the white flower phenotype in pea has been ascertained as a point mutation disrupting a splice site within a bHLH transcription factor [ 47].
This mutation disrupted a conserved disulfide bond that led to an unstable/undetectable saposin B protein, but preserved prosaposin, and saposin A, C and D processing and function.
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