很有可能是个致病突变。因为剪接位点移动一个或两个碱基，实际相当于移码突变了，这种剪接位点处+（-）...
A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattleMale infertility, Sterility, Immotile sperm, Cattle, CCDC189Background Cattle populations are highly amenable to the genetic mapping of male reproductive traits because longitudinal data on ejaculate quality ...
The PRPH splice donor variant rs73112142-A is in the first base site after the fifth exon. Defective splicing generates two truncated frameshift variant proteins. In both cases the truncated proteins retain the first 332 amino acids; then, either four extra base pairs are added at the end of...
11、layersplice顺层连接,层编接 12、splicepad 拼合衬垫 13、splicesite 剪接位点 14、pilesplice堆拼接 15、splicebolt 拼接螺栓 16、splicejunction 剪接点 17、splicedonor 剪接供体 18、splicevariant 剪接变体 19、splicebar 鱼尾板;鱼尾板型钢;制造连接板用的异形钢材;拼接板...
The resulting 5' donor site complex assists in binding of the splicing factor U2AF to the 3' splice site upstream of the exon, through a mechanism that is not yet known (see b). WikiMatrix RNA secondary structure applies in RNA splicing in certain species. WikiMatrix Here, Lenny, loo...
Splice_acceptor_variant 在intron的3'端2碱基范围内的变异 splice_donor_variant => 2, # A splice variant that changes the 2 base region at the 5' end of an intron Splice_donor_variant 在内含子5'端2碱基范围内的变异 exon_loss_variant => 1, # A sequence variant whereby an exon is lost ...
A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing LossThe mutation c.9690 + 1G> A was a splicing-site mutation resulting in a G to A transition at the donor splice site of intron 59. Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive...
A mutation in the hinge region, Q152X, deletes 306 amino acids of the VDR, resulting in a ligand-binding negative phenotype and defective transactivationin vitro[99,100]. The donorsplice site mutationeliminates the 5’ donor splice site of the fifth intron (E), leading to skipping of exon...
SpliceAI is trained on the pre-mRNA sequences surrounding 130,796 annotated donor–acceptor pairs19. By default, SpliceAI scans ±50 nt of a variant entered and reports four delta scores (Δ-score), the maximum difference in score with and without the variant for acceptor loss, acceptor ...
Luckily, we did integrate splice site searching in our filter chain because we isolated a LOF splice donor variant in intron 10 (Figure 4). Moving through the variant evaluation process following the ACMG guidelines, we find that all splice algorithms agree for disruption (Figure 5). This is ...