• amino acid
  • When cells were deprived of a certain amino acid, tryptophan, for prolonged periods of time, point mutations in trp operon reverted to tryptophan, leading to an advantageous result, more frequently than under normal conditions when the mutations were neutral. (wikipedia.org)
  • In addition, the tryptophan mutation rate was unaffected when the cells were deprived of another amino acid, cysteine, further suggesting that the mutation rate was specific to situations in which the mutation was advantageous. (wikipedia.org)
  • Conservative mutations result in an amino acid change. (wikipedia.org)
  • Point mutations present within the site II/III coding region of Y-2-/Y-3-resistant cell lines specify the substitution of asparagine for lysine as T antigen amino acid 228 (K-2) or phenylalanine for tyrosine at position 230 (K-3). (rupress.org)
  • 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. (wikipedia.org)
  • Each entry in a PAM matrix indicates the likelihood of the amino acid of that row being replaced with the amino acid of that column through a series of one or more point accepted mutations during a specified evolutionary interval, rather than these two amino acids being aligned due to chance. (wikipedia.org)
  • If a point mutation occurs within an expressed region of a gene, an exon, then this will change the codon specifying a particular amino acid in the protein produced by that gene. (wikipedia.org)
  • Changing a single amino acid in a protein may reduce its ability to carry out this function, or the mutation may even change the function that the protein carries out. (wikipedia.org)
  • Consequently, acceptance of point mutations depends heavily on the amino acid being replaced in the mutation, and the replacement amino acid. (wikipedia.org)
  • The name of the point mutations indicates the position at which mutation has occurred, in this case the amino acid position 203 and which has been replaced, in this case a C = Cysteine with an R = Arginine. (wikipedia.org)
  • substitution
  • Previously, we identified a point mutation in an infertile male resulting in the substitution of histidine for proline at position 398 of the protein sequence (PLC zeta(H398P)), leading to abnormal PLC zeta function and infertility. (ugent.be)
  • Point mutations identified within independently selected Y-5 resistant populations (K-5 and K-1,4,5) direct the substitution of isoleucine for asparagine at position 496 (K-5) or the substitution of phenylalanine for isoleucine at position 491 (K-1,4,5) of T antigen. (rupress.org)
  • An indel inserts and deletes nucleotides from a sequence, while a point mutation is a form of substitution that replaces one of the nucleotides without changing the overall number in the DNA. (wikipedia.org)
  • locus
  • The FLEx mutation is expressed from the endogenous locus and can therefore be regulated physiologically. (genoway.com)
  • Eventually the hope is that such screens would reach a large enough scale that most or all newly generated mutations would represent a second hit of a locus, essentially saturating the genome with mutations. (wikipedia.org)
  • mutational
  • REPEAT-INDUCED point mutation (RIP) is a unique mutational process that occurs in the sexual cycle of Neurospora crassa during the dikaryotic stage between fertilization and karyogamy. (genetics.org)
  • milder
  • The NGFB mutation in its heterozygous form results in a milder disease than in homozygots with a variable clinical picture, ranging from asymptomatic cases to those with Charcot arthropathy appearing in adult age. (bmj.com)
  • therefore
  • Therefore, the presence of CEBPA mutations are directly associated with a more favorable course for the progression of the disease. (wikipedia.org)
  • consequences
  • We here investigated, in vitro and in silico, the biophysical consequences of clinically-observed Wilson disease mutations, G85V in MBD1 and G591D in MBD6, incorporated in domain 4. (diva-portal.org)
  • biopsies
  • Combined with a new class of massively parallel DNA sequencing technologies or tiling microarrays for resequencing, we are screening colorectal cancer cell lines, primary tumor biopsies and paraffin embedded sections for point mutations. (aacrjournals.org)
  • Genomic
  • Genomic instability involves the accumulation of mutations and is a hallmark of neoplastic development in gastrointestinal malignancies such as colorectal carcinoma. (aacrjournals.org)
  • this technique is able to establish point mutations, gene deletions, and short sequence insertions in several genomic loci with increased efficiency and time sensitivity. (wikipedia.org)
  • dramatically
  • We found the mutations to dramatically reduce the MBD4 thermal stability, shifting the midpoint temperature of unfolding by more than 20 A degrees C. In contrast to wild type MBD4 and MBD4D, MBD4V adopted a misfolded structure with a large beta-sheet content at high temperatures. (diva-portal.org)
  • specific
  • 8 9 Thus the question of whether amyloidosis of FMF has a specific predisposing mutation remains unsettled. (bmj.com)
  • different
  • In 1959 Ernst Freese coined the terms "transitions" or "transversions" to categorize different types of point mutations. (wikipedia.org)
  • If our plan will be successful, we will develop a simple and efficient method to identify different forms of GBA mutations and recombinations. (michaeljfox.org)
  • In these studies it was suggested that some of the phenotypic variations of the disease may be caused by different mutations-for example, M694V and V726A. (bmj.com)
  • Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. (wikipedia.org)
  • Cases are published[citation needed] in which exactly the same mutation is associated with clearly different outcome. (wikipedia.org)
  • affects
  • This mutation arose and was fixed twice in sublines derived from a single female aphid in the lab and kept at constant 20 °C. Experiments using aphid lines that differed only in the presence of this Buchnera mutation revealed that it eliminates the ibpA transcriptional response to heat shock and affects ibpA expression at low temperatures. (pubmedcentralcanada.ca)
  • results
  • 7 These results show that renal amyloidosis can accompany mutations other than the M694V. (bmj.com)
  • The results of such studies are the following: In most cases the mutation in the NF II gene causes shortened peptides. (wikipedia.org)
  • These results suggest that other factors (environment, other mutations) will probably determine the clinical outcome. (wikipedia.org)
  • thus
  • The reason for multiple MBDs is proposed to be indirect modulation of enzymatic activity and it is thus intriguing that point mutations in MBDs can promote Wilson disease. (diva-portal.org)
  • result
  • If this change does not result in any significant physical disadvantage to the offspring, the possibility exists that this mutation will persist within the population. (wikipedia.org)
  • Through statistics, it is suspected that one-half of cases are inherited, and one-half are the result of new, de novo mutations. (wikipedia.org)
  • Mutations of NF II is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that lacks the normal tumor-suppressive effect. (wikipedia.org)
  • scientists
  • With FLEx mice scientists can reproduce a particular pathology that is triggered by a mutation and that normally manifests in adulthood. (genoway.com)
  • However
  • However, the acronym PAM was preferred over APM due to readability, and so the term point accepted mutation is used more regularly. (wikipedia.org)
  • However, 'PAM matrix' refers to one of a family of matrices which contain scores representing the likelihood of two amino acids being aligned due to a series of mutation events, rather than due to random chance. (wikipedia.org)
  • type
  • We recently described a family with neurological findings similar to HSAN (Hereditary sensory and autonomic neuropathy) type V having a point mutation in the Nerve growth factor beta (NGFB) gene. (bmj.com)
  • Mutations to the TUBA1A gene manifest clinically as Type 3 Lissencephaly. (wikipedia.org)
  • Authors note defects associated with cortical layers II/III and IV, especially in cortical neuronal migration (with respect to wild-type counterparts), showing that the S140G mutation has value as a model for detailing disease associated with the Human TUBA homolog. (wikipedia.org)
  • Many people with NF II were included in studies that were designed to compare disease type and progression with exact determination of the associated mutation. (wikipedia.org)
  • previously
  • It was previously believed that these mutations happened completely by chance, with no regard for their effects on the organisms. (wikipedia.org)
  • As previously we reported, we have developed fully automatic high-sensitive point mutation detecting system named mutation-biased PCR and quenched probe (MBP-QP) system for liquid biopsy. (aacrjournals.org)