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11628 Ensembl ENSG00000111732 ENSMUSG00000040627 UniProt Q9GZX7 Q9WVE0 RefSeq (mRNA) NM_020661 NM_001330343 NM_009645 RefSeq (protein) NP_001317272 NP_065712 NP_033775 Location (UCSC) Chr 12: 8.6 – 8.61 Mb Chr 6: 122.53 – 122.54 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Activation-induced cytidine deaminase, also known as AICDA, AID and single-stranded DNA cytosine ...
Site-directed mutagenesis is used to generate mutations that may produce a rationally designed protein that has improved or special properties (i.e.protein engineering). Investigative tools – specific mutations in DNA allow the function and properties of a DNA sequence or a protein to be investigated in a rational approach. Furthermore ...
ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)—also known as von Willebrand factor-cleaving protease (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting.
The permissive temperature is the temperature at which a temperature-sensitive mutant gene product takes on a normal, functional phenotype. [2] When a temperature-sensitive mutant is grown in a permissive condition, the mutant gene product behaves normally (meaning that the phenotype is not observed), even if there is a mutant allele present.
The location of a transversion mutation on a gene coding for a protein correlates with the extent of the mutation. If the mutation occurs at a site that is not involved with the shape of a protein or the structure of an enzyme or its active site, the mutation will not have a significant effect on the cell or the enzymatic activity of its proteins.
A known result of cytosine methylation is the increase of C-to-T transition mutations through the process of deamination. Cytosine deamination can alter the genome's many regulatory functions; previously silenced transposable elements (TEs) may become transcriptionally active due to the loss of CPG sites. [ 3 ]
One form is due to mutations of the glucokinase gene. For each form of MODY, multiple specific mutations involving different amino acid substitutions have been discovered. In some cases, there are significant differences in the activity of the mutant gene product that contribute to variations in the clinical features of the diabetes (such as ...
In genetics, trinucleotide repeat disorders, a subset of microsatellite expansion diseases (also known as repeat expansion disorders), are a set of over 30 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they cause developmental ...