A new algorithm identifies mutation patterns across coding and noncoding DNAEditage Insights
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Here the authors analyse the locations of thousands of human disease mutations and their predicted effects on protein structure and show that,while loss-of-function mutations tend to be hig...
Both micro- and minisatellites usually occur in noncoding DNA (Fig. 16.28). Sign in to download full-size image Figure 16.28. DNA polymorphism; microsatellite and minisatellite. CNV is defined as a change in copy number involving a DNA segment that is 1 kb or larger. The frequencies of ...
Small length changes, generally involvingtandem repeatsranging in size from one to eight bases, are a common form of mutation in the noncoding regions. There is, for example, abundant length variation in theDrosophila even-skippedstripe 2 enhancer (S2E), both polymorphic and fixed differences bet...
Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of coding regions were not identified in candidate genes, the novel intronic mutation c.659-131 T...
Three distinct gene products, the alpha and beta chains of glycoprotein (GP) Ib and GP IX, constitute the platelet membrane GP Ib-IX complex, a receptor for von Willebrand factor and thrombin involved in platelet adhesion and aggregation. Defective function of the GP Ib-IX complex is the hall...
Tumor DNA and nontumor DNA were sequenced and variants were reported as described previously11 (eAppendix 2 in the Supplement 1). Variants were interpreted based on American College of Medical Genetics and Genomics criteria18 by a clinical molecular geneticist or molecular pathologist; variants of ...
2b). Interestingly, three protein-coding regions within orf1ab had high percentage of conserved sequences: 54.88% for nsp8; 43.65% for nsp10; 43.29% for RdRp. In contrast, the E gene did not overlap with any conserved regions. This result suggests that the E gene is more likely to ...
Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is far
When the include mode is used, group mutations according to their occurrence in user-specified annotated genomic segments; such segments could represent specific genomic or epigenomic contexts (e.g. actively transcribed coding regions). Alternately, in the exclude mode, mutations in undesired regions ...