Protein truncated

CYP3A Drug metabolism SNPs cause alternative splicing and protein truncation 19... 

The protein truncation test is a way of testing large genes (e.g., NEl) for which an antibody is available. PTT can detect nonsense mutations that are peptide chain terminating. These show up, after reverse transcription/cell-free translation, as shorter-than-normal peptides in an electrophoretic gel (Eig. 3C). 

Gardner, R.J., Bobrow, M., and Roberts, R.G., 1995, The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test, Am J Hum Genet, 57, pp 311—320. 

Nonsense Mutation. A base substitution that mutates the codon of one amino acid to a stop codon, TAA (ochre), TAG (amber), or TGA (opal). A nonsense mutation results in protein truncation of a protein-coding gene. Thus, nonsense mutation is another type of severe mutation, which results in inactivation of the protein product most of the time. 

Three Ni-confaintng enzymes (see Nickel Enzymes Cofactors) appear to utilize Ni metallochaperones for enzyme activation. UreE appears to function in NP+ delivery to urease. The Klebsiella aerogenes protein binds 6 Ni per dimer, whereas that from Bacillus pasteurii binds a single Ni per dimer. The metal content differences arise from a His-Asp-His sequence near the middle and a histidine-rich region at the carboxyl terminus of the former protein. Truncated K aerogenes UreE protein, missing the His-rich... 

Gite S, Lim M, Carlson R, Olejnik J, Zehnbauer B, Rothschild K. A high throughput nonisotopic protein truncation test. Nat Biotech 2003 21 194-7. 

Hogervorst FBI, Cornelis RS, Bout M, van Vliet M, Oosterwijk fC, Ohner R, et al. Rapid detection of BRCAl mutations by the protein truncation test. Nature Genet 1995 10 208-12,... 

The majority of biopharmaceutical proteins are complex glycoproteins. Among them, monoclonal antibodies have experienced tremendous growth over recent years with some products reaching blockbuster status (see also Part V, Chapters 1 and 2). They are followed by cytokines and fusion proteins - truncated re-... 

The EFP describing the rest of the protein is generated by nine separate ab initio calculations on overlapping pieces of the protein truncated by methyl groups. Two different regions of overlap are used depending on whefher it occurs on the... 

Protein truncation test (PTT) High sensitivity for chain terminating mutations shows position of change Chain-terminating mutations only experimentally difficult best with RNA expensive... 

Protein truncation test Highly sensitive for chain terminating Detects mutations that lead to protein... 

Abnormal protein truncation due to the presence of premature stop codons (PTCs) is the cause of genetic diseases such as cystic fibrosis and Duchenne muscular dystrophy. 

Fatty acid co-3 desaturase 2, acyl-acyl carrier protein thioesterase, diacylglycerol acyl-transferase, dihydrodipicolinate synthase, high-lysine protein, truncated cysteine synthase... 

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