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B-Raf is a 766-amino acid, regulated signal transduction serine/threonine-specific protein kinase.Broadly speaking, it is composed of three conserved domains characteristic of the Raf kinase family: conserved region 1 (CR1), a Ras-GTP-binding [11] self-regulatory domain, conserved region 2 (CR2), a serine-rich hinge region, and conserved region 3 (CR3), a catalytic protein kinase domain that ...
V600E is a mutation of the BRAF gene in which valine (V) is substituted by glutamic acid (E) at amino acid 600. [1] [2] It is a driver mutation in a proportion of certain diagnoses, including melanoma, [3] [4] hairy cell leukemia, [5] [6] papillary thyroid carcinoma, [7] [8] colorectal cancer, [9] non-small-cell lung cancer, [10] [11] Langerhans cell histiocytosis, [12] Erdheim–Chester ...
The mutation may result in the complete failure to produce a gene product or a gene product that does not function properly; in either case, the allele may be considered non-functional. nullisomy The condition of a cell or organism lacking all of the copies of a particular chromosome that are normal for its ploidy level; e.g. in a diploid ...
Vertebrate genes and proteins have names (typically strings of words) and symbols, which are short identifiers (typically 3 to 8 characters). For example, the gene cytotoxic T-lymphocyte-associated protein 4 has the HGNC symbol CTLA4. These symbols are usually, but not always, coined by contraction or acronymic abbreviation of the name.
It is analogous to biological mutation. The classic example of a mutation operator of a binary coded genetic algorithm (GA) involves a probability that an arbitrary bit in a genetic sequence will be flipped from its original state. A common method of implementing the mutation operator involves generating a random variable for each bit in a ...
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected ...
A mutation accumulation (MA) experiment is a genetic experiment in which isolated and inbred lines of organisms (so-called MA lines) are maintained such that the effect of natural selection is minimized, with the aim of quantitatively estimating the rates at which spontaneous mutations (mutations not caused by exogenous mutagens) occur in the studied organism.
A point accepted mutation — also known as a PAM — is the replacement of a single amino acid in the primary structure of a protein with another single amino acid, which is accepted by the processes of natural selection. This definition does not include all point mutations in the DNA of an organism.