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MutationTaster is a web-based tool that allows users to enter a gene, a transcript and an alteration and predict its effects on the protein sequence and function. Users can also choose different options to customize the analysis and output.
- Query Chromosomal Positions
MutationTaster2021 has been released! See changes. For...
- Documentation
Your mutation of interest seems to span an exon/intron...
- FAQs
Mutation T @ ster FAQs : MutationTaster FAQs | QueryEngine...
- Examples
Example 5 (disease mutation): CHRND_L63P_chrPos The mutation...
- Tutorial
You find a mutation in the gene for the delta subunit of the...
- Statistics
each disease mutation was used 55 times in the training of...
- Phylop and Phastcons With Real Data
Mutation T @ ster PhyloP and PhastCons with real data: To...
- Query Chromosomal Positions
24 de abr. de 2021 · This single base exchange in the CHRND gene is listed in NCBI ClinVar as a known disease-causing variant (dbSNP:rs121909508) for MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL, OMIM 100720#0013). It results in an amino acid exchange from leucin to proline.
Disease mutation via chromosomal position: CHRND_L63P (chr2:233391374T>C) Imagine you sequenced the complete exome of a patient suffering from Myasthenic syndrome. You find a mutation in the gene for the delta subunit of the nicotinic acetylchloline receptor on chromosome 2 (chr2:233391374T>C).
22 de jul. de 2022 · Mutation Taster is a platform that predicts the effect of a gene variant on its encoded protein. This tutorial provides instruction on how to enter information about a gene ...more. This video...
MutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential. The software performs a battery of in silico tests to estimate the impact of the variant on the gene product / protein.
2 de jul. de 2021 · MutationTaster2021 integrates our disease mutation search engine, MutationDistiller, to prioritise variants from VCF files using the patient's clinical phenotype. The novel version is available at https://www.genecascade.org/MutationTaster2021/.
