Define Splice site. Splice site synonyms, Splice site pronunciation, Splice site translation, English dictionary definition of Splice site. position; location; place; setting of an event Not to be confused with: cite – to quote; refer to as an example;
A splice site mutation is a gene mutation that alters nucleotides at splice control sequences, changing the patterns of RNA splicing. From:Clinical and Translational Science,2009 About this page Add to MendeleySet alert On this page Definition ...
Looking for online definition of splice variant in the Medical Dictionary? splice variant explanation free. What is splice variant? Meaning of splice variant medical term. What does splice variant mean?
Cortez, A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke im- munoosseous dysplasia, Am. J. Med. Genet. 167A (2015) 2260-2264.Carroll, C., Hunley, T. E., Guo, Y., and Cortez, D. (2015) A novel splice site mutation in SMARCAL...
COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome. Mutations affecting the COL4A5 gene encoding the α5 chain of type IV collagen, are involved in the pathogenesis of X-linked Alport syndrome. We used denaturing gradient gel electrophoresis (DGGE) to screen PCR ...
It is often the case that mammalian genes are alternatively spliced; the resulting alternate transcripts often encode protein isoforms that differ in amino acid sequences. Changes among the protein isoforms can alter the cellular properties of proteins.
mutation around intron in the GLA gene. SpTransformer considers sequence features both proximal and distal to the splice donor site. Mutagenesis weight was calculated by the decrease in the predicted strength of the splice site when that nucleotide is mutated.cImpact of in silico mutation around ...
Variations in transcript splicing can reveal how eukaryotes recognize intronic splice sites. Retained introns (RIs) commonly appear when the intron definition (ID) mechanism of splice site recognition inconsistently identifies intron-exon boundaries, and
Generally, the splicing implied that the mutation created stronger cryptic splice pairs that may compete with the constitutively used splice site pairs, thus impairing exon definition, as described by Dietz.13 Occa- sionally, however, some factual splice sites were not so 'strong,' which may be...
mutation on splice site usage of A1 in the splicing reporter by excluding exon definition through deletion of 5'ss D2. Similar to the infection experiments 3'ss A1 usage involving in intron definition still occurs in the presence of Δ M1 mutation although to a somewhat lesser extent (Fig. ...