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
Splice Site MutationSplice (Junction) Mutationdoi:10.1007/3-540-29623-9_8774Springer Berlin HeidelbergDefinitions
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...
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 ...
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 ...
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 ...
A 5-bp substitution in sh1-m covering the 3′ end of the thirteenth exon and the 5′ splicing site of the thirteenth intron led to a missense mutation and a mis-splicing site that resulted in early translational termination. sh1 reference mutant sh1-912A ( shrunken-912A ) had a ...
Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D. A splice site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma. Ophthalmic Genet. 2006; 27 :157–159. doi: 10.1080/13816810600977168. [ Cross Ref ]...
Mutation type Splice site mutation Zygosity Homozygous Allelic Frequency 100% Transcript NM_000245.4 Cosmic ID N/A Chr position(GRCh37) N/A Buffer Tris-EDTA Product Information Intended Use Research Use Only Unit Size 1ug Concentration Download for COA Purofication ...
5) splice site mutation 剪接位点突变6) shear mutation 剪力突变 1. Through internal force analysis on the intersection of horizontal outriggers and tube wall for frame-tube structure with horizontal outriggers,and discussing the reasons of shear mutation on this position,the primary influencing ...