TITINdb—a computational tool to assess titin’s role as a disease gene
نویسندگان
چکیده
Summary Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin's large size (363 coding exons), current web applications are unable to map titin variants to domain structures. Here, we present a web application, TITINdb, which integrates titin structure, variant, sequence and isoform information, along with pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate the correct classification of titin variants. Availability and implementation TITINdb can be freely accessed at http://fraternalilab.kcl.ac.uk/TITINdb. Contact [email protected]. Supplementary information Supplementary data are available at Bioinformatics online.
منابع مشابه
In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene
Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...
متن کاملMammalian Eye Gene Expression Using Support Vector Regression to Evaluate a Strategy for Detecting Human Eye Disease
Background and purpose: Machine learning is a class of modern and strong tools that can solve many important problems that nowadays humans may be faced with. Support vector regression (SVR) is a way to build a regression model which is an incredible member of the machine learning family. SVR has been proven to be an effective tool in real-value function estimation. As a supervised-learning appr...
متن کاملGenome-wide computational prediction of miRNAs in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) revealed target genes involved in pulmonary vasculature and antiviral innate immunity
The current outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)in China threatened humankind worldwide. The coronaviruses contains the largest RNA genome among all other known RNA viruses, therefore the disease etiology can be understood by analyzing the genome sequence of SARS-CoV-2. In this study, we used an ab-intio based computational tool VMir to scan the complete geno...
متن کاملThe Giant Protein Titin: A Major Player in Myocardial Mechanics, Signaling, and Disease The Dystrophin Glycoprotein Complex: Structure and Function in Cardiac and Skeletal Muscle Cardiac Myosin Binding Protein C: Its Role in Physiology and Disease
The sarcomere contains, in addition to thin and thick filaments, a filament composed of the giant protein titin (also known as connectin). Titin molecules anchor in the Z-disc and extend to the M-line region of the sarcomere. The majority of titin’s I-band region functions as a molecular spring. This spring maintains the precise structural arrangement of thick and thin filaments, and gives rise...
متن کاملRapid and accurate diagnosis of Foot-and-mouth disease virus by Real-time PCR in field samples
During 2010-2011, Real-time PCR procedure was used to detecting FMDV RNA on 147 epithelium samples from the field. In this survey, for Real-time PCR from 3D gene segment as conserve region selected for tracking all of seven serotypes FMDV. The assay detected the viral RNA in all serotypes of FMDV. The rRT-PCR specifically detected FMD virus in sample with greater sensitivity than our convention...
متن کامل