Sentence examples for mutations and truncations from inspiring English sources
Inactivating mutations and truncations in the RSK2 gene are responsible for Coffin-Lowry syndrome (CLS), which is characterized by severe mental retardation and progressive skeletal deformations [38], [39], [40], [41].
The combination of mutations and truncations affecting both binding sites showed an additive effect supporting the view that each site is individually capable of membrane binding.
The most common effect of single-point mutations and truncations is an increase in the size of the oligomeric complex [ 44- 46].
Mutations and truncations that alter the structure of the half-zippered neuronal SNARE complex and/or its folding energy and kinetics abolish membrane fusion (Ma L, Gao Y, Yang G, and Zhang YL, manuscript in preparation).
Indeed, the manuscript contains massive amounts of biochemical data involving Ank_repeats point mutations and truncations as well as a panel of ankyrin's targets in order to provide adequate supports to the scientific conclusions drawn.
The former occurs due to environmental exposure to a variety of toxicants that interact with vulnerable genes, and the latter involves genetic factors, e.g. point mutations and truncations that can occur in a variety of proteins [ 2].
Interestingly, like the chicken CR1 elements, most of the Tad transposons are inactive in Neurospora due to mutation and truncation.
In this study, we observed that mutation and truncation of this region lead to FUS mislocalization, confirming data previously published in which the C-terminus has been shown to contain an NLS (14, 32– 32).
These include defined subtypes of retroposed elements, diagnostic mutations, and characteristic truncations of the consensus retroelements.
Despite mutations and partial truncations of TIRs within the TCAST transposon-like elements, and likely because of the length of the TIRs, most of the elements still preserve a stable secondary structure and could potentially remain mobile.
Forty-two of the sequenced 5FOAR clones contained a mutation; single amino acid substitutions were identified in 32 clones, while silent mutations (4), and truncation or frameshift events (6) made up the remainder.
