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+（-）...
Splice_region: 变异发生在splice site区域内或者外显子的1-3碱基处或者内含子的3-8碱基处 Splice_Site return "Splice_Site" if( $effect =~ /^(splice_acceptor_variant|splice_donor_variant|transcript_ablation|exon_loss_variant)$/ ); Splice_Site 又细分到splice_acceptor_variant、splice_donor_variant、...
Novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in a boy with malignant paraganglioma in a family with non-classical congenital adrenal hyperplasia. Exp Clin Endocrinol Diabetes. 2007; 115 :S39. doi: 10.1055/s-2007-972346. [ Cross Ref ]...
and for pressing the end of the web against the periphery of an interchanged new winding roll (1), in order to produce an adhesive bond, has a splice element (6) which can be placed on the web being wound off (4), moved beyond the region of a full winding roll (1) and pressed ...
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...
4b). Cryptic activation is predicted by Δ-gain score above threshold for any unannotated donor or acceptor within the bounds of the exon and intron flanking the variant splice site (Fig. 4c). Delta scores that do not fall into these categories are annotated as ‘other’ (Methods)....
We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders and find a low-frequency splice-donor variant in PRPH (c.996+1G>A; MAF = 1.32%) associating with decreased NC amplitude but not velocity. PRPH...
The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler–Scheie syndro
We evaluated the performance of SpTransformer on two tasks using the compiled test dataset: 1) splice site prediction in long sequences: the model took each pre-mRNA sequence as input and identified every splice acceptor and donor within a target region of 1000 nt. Given that most positions...
We filter the set of splice variants by requiring that every base in the variant region be exonic in at least one alignment and intronic in at least one alignment. Because EST data are fragmentary we cannot be sure that initial or terminal exons are complete. To ensure accurate labeling as ...