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Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer ...
Site-directed mutagenesis is a technique often employed to create knock-in and knock-out models that express missense mRNAs. For example, in knock-in studies, human orthologs are identified in model organisms to introduce missense mutations, [7] or a human gene with a substitution mutation is integrated into the genome of the model organism. [8]
9935 16658 Ensembl ENSG00000204103 ENSMUSG00000074622 UniProt Q9Y5Q3 P54841 RefSeq (mRNA) NM_005461 NM_010658 RefSeq (protein) NP_005452 NP_034788 Location (UCSC) Chr 20: 40.69 – 40.69 Mb Chr 2: 160.21 – 160.21 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in ...
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This page was last edited on 18 September 2023, at 13:53 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.
Currently, the SCN1A gene is the most clinically relevant; the largest number of DS-related mutations characterized thus far occur in this gene. [6] [12] Typically, a missense mutation in either the S5 or S6 segment of the sodium channel pore results in a loss of channel function and the development of Dravet syndrome. A heterozygous ...
[4] [5] Thus, a knowledge of mutation bias can be used to design more evolution-resistant therapies. [4] When mutation bias is invoked as a possible cause of some pattern in evolution, this is generally an application of the theory of arrival biases, and the alternative hypotheses may include selection, biased gene conversion, and demographic ...
CVM is caused by a missense mutation in the bovine SLC35A3 gene. The mutant protein has the amino acid phenylalanine at position 180 instead of valine.This causes abnormal nucleotide-sugar transport into the Golgi apparatus, leading to malformations of the vertebral column.