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We identified a new bri1 allele, bri1-120, whose mutation site has not yet been found or characterized.
AA change: marked if the mutation site has been sequenced and a mutation changes the amino acid sequence; Annotation: description of the protein.
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More than 1,000 mutation sites have been identified in CFTR, and most have been related to different manifestations of the disease.
This is intuitive, as probes of the same length that target different mutation sites have different G+C contents, and hence, probes that require different stringencies in order to perform optimally.
Since L80 lies in the core of the cavity which might be important for ligand binding (Additional file 7 ), it is possible that mutation at this site has disrupted ligand binding resulting in an unstable META1 conformation, leading to its degradation.
All of the detected PLCG2 mutations were novel6, although a mutation at the S707 site has been previously implicated in ibrutinib resistance (S707Y, ref. 6) and has been shown in vitro to disrupt an auto-inhibitory SH2 domain of PLCG2 (ref. 11).
Some amino acid members (W, Q and K) can mutant and the Q site has high mutation frequence.
Collectively, the data demonstrate that mutation of the phospho-Ser1579 site has no effect on Wnt-mediated signalling, but that this site is essential for LRP6/Dab2 interactions and for Dab2 to mediate its inhibitory activity on Wnt-mediated dorsoventral patterning.
Mutation of the 3 n site has little effect on the expression of enhancer (Fig 5D), whereas mutation of both 4 n sites (Fig 5E) results in levels of expression similar to those obtained after mutation of both the 3 n and 4 n sites.
Recombination between an LE mutant lox and an RE mutant lox results in the generation of a double mutant lox site having mutations in both ends and a wild-type loxP site.
To elucidate the structure and local conformation around the mutation site, we have determined the solution structure and characterized the protein's dynamic behavior by NMR.
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