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activating mutations(passive) created bysplice sites
their way into expressed sequences by events such as mutationscreatesplice sites
of acceptor sites ( the 3′-end of the intron ) and donor sites ( the 5′-end of the intron(passive) are composedSplice - sites
The products from these twoalternateresultsplice - sites
6)Free textFigure 1ESSsgenerally influencesplice site
disruptingcreatingsplice sites
the insertion of the maize transposable element Dissociation ( Ds(passive) created bysplice sites
SVA 's abilityto contributesplice sites
a combined pituitary hormone deficiency(passive) is caused bysplice site
aberrant splicing to occur.[22can causeaberrant splicing to occur.[22
aberrant splicing to occur.[14can causeaberrant splicing to occur.[14
aberrant splicing to occur.[10can causeaberrant splicing to occur.[10
a pool of predicted sites that SpliceGrapher combines with known splice sites when it generates splice junction sequencescontributea pool of predicted sites that SpliceGrapher combines with known splice sites when it generates splice junction sequences
access by the spliceosomepreventingaccess by the spliceosome
in alternative splicingresultsin alternative splicing
in the generation of more than one alternatively spliced isoforms from a single pre - mRNAresultingin the generation of more than one alternatively spliced isoforms from a single pre - mRNA
abnormal splicing such as familial dysautonomiacauseabnormal splicing such as familial dysautonomia
to their recognition as exonsleadingto their recognition as exons
in amino acid changes and predicted truncated proteinsresultin amino acid changes and predicted truncated proteins
the scene and 99 % of you's ... settingthe scene and 99 % of you
of the expected number of canonical splice sitesare composedof the expected number of canonical splice sites
frequentlycausefrequently
to splicing errors of the mRNAwill leadto splicing errors of the mRNA
of snRNAComposedof snRNA
with the aim of preventing the pathological pseudoexon inclusionwere designedwith the aim of preventing the pathological pseudoexon inclusion
to frameshiftleadingto frameshift
of GUUUGU - UAG ( Fig . (Fig.1D).1Dprimarily composedof GUUUGU - UAG ( Fig . (Fig.1D).1D
an evaluation of its effect on the IKBKAP transcript in FD - derived cellspromptedan evaluation of its effect on the IKBKAP transcript in FD - derived cells
against zebrafish sec10designedagainst zebrafish sec10
alternative in - frame splicing ( for examplecreatedalternative in - frame splicing ( for example
in the generation of small amounts of wild - type CD40Lresultin the generation of small amounts of wild - type CD40L
to an alternatively spliced transcript containing an extra 30 nucleotides with a UAG stop codon in the 28th to 30th positionwould leadto an alternatively spliced transcript containing an extra 30 nucleotides with a UAG stop codon in the 28th to 30th position
from minor sequencing errorsresultingfrom minor sequencing errors
in alternative isoforms [ 9–12resultingin alternative isoforms [ 9–12
from zfAPEX1aoriginatingfrom zfAPEX1a
mutations or mutations of spliceosome proteinscreatingmutations or mutations of spliceosome proteins
in undetectable mRNA speciesresultingin undetectable mRNA species
differences in the levels of splice variants between speciescausingdifferences in the levels of splice variants between species
in complete loss of functionresultingin complete loss of function
in in - frame stop codons at various positions upstream of the bZIP domainresultin in - frame stop codons at various positions upstream of the bZIP domain
frameshifts are over - represented among non - synonymous mutations associated with inhibitorscausingframeshifts are over - represented among non - synonymous mutations associated with inhibitors
from the nucleotide changeresultingfrom the nucleotide change
to the generation of an in - frame Cul3 mRNA lacking exon 9leadingto the generation of an in - frame Cul3 mRNA lacking exon 9
to a change in CFTR proteinleadingto a change in CFTR protein
to aberrant transcripts or mutations in regulatory regions that abolish gene expressionleadto aberrant transcripts or mutations in regulatory regions that abolish gene expression
to an mRNA that codes for a receptor lacking 17 amino acids of the third Ig domain which is involved in ligandleadingto an mRNA that codes for a receptor lacking 17 amino acids of the third Ig domain which is involved in ligand
human proteincod gene exhibitsethuman proteincod gene exhibit
in the identification of 2,449 variations in 2,131 genes and 246 indels in 232 genesresultedin the identification of 2,449 variations in 2,131 genes and 246 indels in 232 genes
exon skipping in a girl with mitochondrial acetoacetyl - coenzyme A thiolase deficiencycausingexon skipping in a girl with mitochondrial acetoacetyl - coenzyme A thiolase deficiency