novel splice site mutations have been identified one by one, for example, mutation of c.1875+1G>C (Barbirato et al., 2009) in a Brazilian patient with type III OI and c.3207+1G>A (Peng et al., 2012) in a Chinese family with type I OI. As of now, the number of splice site ...
site position; location; place; setting of an event Not to be confused with: cite –to quote; refer to as an example; commend; summon before a court of law sight –vision; a view; mental perception; prospect; something worth seeing site location; setting of an event: This is the site...
The new mutation is the first splice-site mutation ever identified in CPT II deficiency. The fact that it was not discovered in the patient's cDNA makes this study another example of the incompleteness of mutation detection at the mRNA level in cases where a mutation leads to aberrant ...
For U2AF1, the S34F mutation has already been found to alter the cleavage and polyadenylation sites of a subset of affected transcripts. In particular, S34F-associated use of a distal polyadenylation site in the ATG7 transcript was sufficient to transform BaF3 or small airway cell lines, and ...
analyses; for example, a computer-based analysis suggested that exon skipping might occur, if the mutation was localized in exons longer than 170 bp [11], and, according to the Human Splicing Finder (http://www.umd.be/HSF3/technicaltips.html), a cryptic splice-site activation might add...
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.
Remarkably, the splicing efficiency of these splice-site combinations corre- lates with their frequencies in our database. Furthermore, evidence has been found for U12-type non-canonical splicing in samples from a Peutz–Jeghers syndrome patient that have a A to G mutation at...
is fully automatic and handles millions of sequences per experiment. Specificities determined by DeepBind are readily visualized as a weighted ensemble of position weight matrices or as a ‘mutation map’ that indicates how variations affect binding within a specific sequence (Alipanahi et al., 2015...
as has been demonstrated by splice site mutation experiments inDrosophilaandSchizosaccharomyces[17,18]. Creating a CE via ID, however, would theoretically require coordinated mis-recognition of two splice sites and pairing of splice sites over a greater distance. If this distance were greater than 20...
To test whether this slower migrating pre-mRNA reflects free pre-mRNA released from the spliceosome, we assessed the migration of pre-mRNA that cannot assemble a spliceosome either because of a G1C/U2G double mutation of the 5′ splice site consensus sequence or because of an absence of ATP...