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- Splice_site_mutation abstract "A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. The deletion of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of abnormal proteins. When a splice site mutation occurs, the mRNA transcript possesses information from these introns that normally should not be included. Introns are supposed to be removed, while the exons are expressed. The mutation must occur at the specific site at which intron splicing occurs: within non-coding sites in a gene, directly next to the location of the exon. The mutation can be an insertion, deletion, frame shift, etc. The splicing process itself is controlled by the given sequences, known as splice-donor and splice-acceptor sequences, which surround each exon. Mutations in these sequences may lead to retention of large segments of intronic DNA by the mRNA, or to entire exons being spliced out of the mRNA. These changes could result in production of a nonfunctional protein. An intron is separated from its exon by means of the splice site. Acceptor-site and donor-site relating to the splice sites signal to the splicesome where the actual cut should be made. These donor sites, or recognition sites, are essential in the processing of mRNA. The average vertebrate gene consists of multiple small exons (average size, 137 nucleotides) separated by introns that are considerably larger.".
- Splice_site_mutation thumbnail Splice_site_mutation.jpg?width=300.
- Splice_site_mutation wikiPageExternalLink index.html.
- Splice_site_mutation wikiPageExternalLink www.epilepsy.com.
- Splice_site_mutation wikiPageExternalLink index.html.
- Splice_site_mutation wikiPageExternalLink 2566.
- Splice_site_mutation wikiPageID "5707633".
- Splice_site_mutation wikiPageLength "11736".
- Splice_site_mutation wikiPageOutDegree "34".
- Splice_site_mutation wikiPageRevisionID "687596485".
- Splice_site_mutation wikiPageWikiLink ADAMTS13.
- Splice_site_mutation wikiPageWikiLink Adenoviridae.
- Splice_site_mutation wikiPageWikiLink Beta_thalassemia.
- Splice_site_mutation wikiPageWikiLink Category:Gene_expression.
- Splice_site_mutation wikiPageWikiLink Category:Mutation.
- Splice_site_mutation wikiPageWikiLink Cystatin_B.
- Splice_site_mutation wikiPageWikiLink Deletion_(genetics).
- Splice_site_mutation wikiPageWikiLink Drosophila_melanogaster.
- Splice_site_mutation wikiPageWikiLink Exon.
- Splice_site_mutation wikiPageWikiLink Febrile_seizure.
- Splice_site_mutation wikiPageWikiLink File:Splice_site_mutation.jpg.
- Splice_site_mutation wikiPageWikiLink Genetic_disorder.
- Splice_site_mutation wikiPageWikiLink Genetics.
- Splice_site_mutation wikiPageWikiLink Globin.
- Splice_site_mutation wikiPageWikiLink Human_Genome_Project.
- Splice_site_mutation wikiPageWikiLink Information_theory.
- Splice_site_mutation wikiPageWikiLink Insertion_(genetics).
- Splice_site_mutation wikiPageWikiLink Mature_messenger_RNA.
- Splice_site_mutation wikiPageWikiLink Model_organism.
- Splice_site_mutation wikiPageWikiLink Mutation.
- Splice_site_mutation wikiPageWikiLink Nobel_Prize_in_Physiology_or_Medicine.
- Splice_site_mutation wikiPageWikiLink Online_database.
- Splice_site_mutation wikiPageWikiLink Parathyroid_hormone.
- Splice_site_mutation wikiPageWikiLink Phillip_Allen_Sharp.
- Splice_site_mutation wikiPageWikiLink Point_mutation.
- Splice_site_mutation wikiPageWikiLink Precursor_mRNA.
- Splice_site_mutation wikiPageWikiLink Protein.
- Splice_site_mutation wikiPageWikiLink RNA_splicing.
- Splice_site_mutation wikiPageWikiLink Richard_J._Roberts.
- Splice_site_mutation wikiPageWikiLink Spliceosome.
- Splice_site_mutation wikiPageWikiLink Stop_codon.
- Splice_site_mutation wikiPageWikiLink Thrombotic_thrombocytopenic_purpura.
- Splice_site_mutation wikiPageWikiLink Transversion.
- Splice_site_mutation wikiPageWikiLinkText "Splice site mutation".
- Splice_site_mutation wikiPageWikiLinkText "splice phase mutations".
- Splice_site_mutation wikiPageWikiLinkText "splice site mutation".
- Splice_site_mutation wikiPageWikiLinkText "splice site".
- Splice_site_mutation wikiPageUsesTemplate Template:Reflist.
- Splice_site_mutation subject Category:Gene_expression.
- Splice_site_mutation subject Category:Mutation.
- Splice_site_mutation hypernym Mutation.
- Splice_site_mutation type Bird.
- Splice_site_mutation type Process.
- Splice_site_mutation comment "A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. The deletion of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of abnormal proteins.".
- Splice_site_mutation label "Splice site mutation".
- Splice_site_mutation sameAs Q5487490.
- Splice_site_mutation sameAs Silmukointikohtamutaatio.
- Splice_site_mutation sameAs m.0f09cs.
- Splice_site_mutation sameAs Q5487490.
- Splice_site_mutation wasDerivedFrom Splice_site_mutation?oldid=687596485.
- Splice_site_mutation depiction Splice_site_mutation.jpg.
- Splice_site_mutation isPrimaryTopicOf Splice_site_mutation.