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an AA dinucleotide ... an AI dinucleotideresultedin a new splice site
the mutationmay resultin splice site changes
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key splicing factorsinfluencingsplice site selection
key splicing factorsinfluencesplice site selection
factorscan influencesplice site selection
Individual SR proteinscan influencesplice site selection
additional downstream cis - elementswere ... influencingsplice site selection
A mutationleadsto an aberrant splice site
a mutationresultsin an aberrant splice site
these variationsinfluencesplice site modification
specifically nucleotide substitutionsinfluencean intron splice site
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This mutationcausesa cryptic splice site
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to the deletion of exon 3 from mRNA encoded with the geneledto the deletion of exon 3 from mRNA encoded with the gene
exon 14 skippingcausingexon 14 skipping
Aberrant splicing(passive) can be caused byAberrant splicing
deletion of exoncausingdeletion of exon
to the loss of exon 4 and subsequent truncation of the proteinleadsto the loss of exon 4 and subsequent truncation of the protein
a frameshift following exon 7causinga frameshift following exon 7
oftencontributeoften
to aberrant splicingleadsto aberrant splicing
in milder formsresultin milder forms
in premature stop codonsresultingin premature stop codons
a frameshiftcausinga frameshift
to the observed insertion in the matureleadingto the observed insertion in the mature
to the observed insertion in the mature mRNAleadingto the observed insertion in the mature mRNA
to alternative splicing of the pre - mRNAleadsto alternative splicing of the pre - mRNA
lethal factor VII deficiencycauseslethal factor VII deficiency
in the in - frame deletion of 9 bp of the exon 5 leading to a deletion of three amino acids ( pos . 429 - 431 - two conserved isoleucin residues and a conserved glutamic acid residueresultedin the in - frame deletion of 9 bp of the exon 5 leading to a deletion of three amino acids ( pos . 429 - 431 - two conserved isoleucin residues and a conserved glutamic acid residue
exon skippingcausingexon skipping
in a partial intron retention in mature mRNA with the production of truncated proteinsresultedin a partial intron retention in mature mRNA with the production of truncated proteins
in a frameshift and lacks an exon in the 3 ' coding region compared to variant 1resultsin a frameshift and lacks an exon in the 3 ' coding region compared to variant 1
in an alteration of the reading frame of mRNAresultingin an alteration of the reading frame of mRNA
in a truncated proteinresultingin a truncated protein
to an altered reading frame at amino acidleadingto an altered reading frame at amino acid
in a frameshift in the 3 ' coding regionresultsin a frameshift in the 3 ' coding region
a frameshift in the 3 ' coding regioncausesa frameshift in the 3 ' coding region
to an altered reading frame at amino acid 215 andleadingto an altered reading frame at amino acid 215 and
in a frameshift compared to variant 1resultsin a frameshift compared to variant 1
in the use of an alternate start codonresultsin the use of an alternate start codon
in a premature stop codon andresultedin a premature stop codon and
to a ban of that person or persons from future regattasmay leadto a ban of that person or persons from future regattas
new friendsdiscovernew friends
to use of cryptic splice sitesleadingto use of cryptic splice sites
a frameshiftcausesa frameshift
in skipping of exon 7resultsin skipping of exon 7
to [ [ exon ] ] skipping and singleleadingto [ [ exon ] ] skipping and single
in the introduction of a 539 nt intron between a 3 ' penultimate and 3 ' terminal exonresultsin the introduction of a 539 nt intron between a 3 ' penultimate and 3 ' terminal exon
in lacking of 9 nts in the CDSresultsin lacking of 9 nts in the CDS