SCN1A geninde yeni bir mutasyonun tanimlandigi Dravet Sendromu olgusu/A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene A heterozygous COL3A1 variant in intron 36 (c.2553+5G>A) was detected and was classified as a class 4 (probably pathogenic) splice site variant...
For an acceptor splice site mutation, the cell will skip using that splice site and go looking for another splice site to use. Some times the cell will simply use the next splice that is normally used for that gene, resulting in skipping of an exon (Figure 5.16). In other cases the ce...
网络突变 网络释义 1. 突变 ...的改变(写成c.406-2A>G)造成基因接合处的突变(splice-site mutation),而导致mucolipin-1蛋白的制作提前终止。 gene.bhp.doh.gov.tw|基于2个网页
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An intronic insertion of 79 basepairs is present in the c.742G>A individual’s cDNA, located between the mutation substitution site (green arrow) and the presumed intronic cryptic splice site (pink arrow). The sequence shows no indication of use of the regular splice donor site. The ...
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DFNB49 TRIC Splice-site mutation This article is cited by FOXO3/TGF-β signal-dependent ciliogenesis and cell functions during differentiation of temperature-sensitive mouse cochlear precursor hair cells Takuya Kakuki Takayuki Kohno Takashi Kojima Histochemistry and Cell Biology (2022) The intestinal ...
This splice-site mutation, which results in omission of exon 6 and creates a frame-shift and premature stop codon in transcripts from the mutant allele, was found in seven family members--four of whom have developed breast, ovarian or choroid plexus tumors before age 35. Our finding suggests...
DNA Changec.3028G>C AA ChangeMET Exon 14 skipping Mutation typeSplice site mutation ZygosityHomozygous Allelic Frequency100% TranscriptNM_000245.4 Cosmic IDN/A Chr position(GRCh37)N/A BufferTris-EDTA Product Information Intended UseResearch Use Only ...
Compound heterozygosity for a large intragenic deletion and a nonsense mutation was found in one of them while the other is carrying two novel splice-site mutations. Breakpoint-sequence analysis suggests a non-allelic-homologous-recombination (NAHR) event, probably underlying the rearrangement. These ...