Contents
How do you identify DNA variants?
Variants are usually detected by reading the DNA code, a method called DNA sequencing. A proper report always contains the variant described on the DNA level. In addition, a report usually contains a description of the predicted consequence of the variant on the protein, rarely the consequence on RNA.
Which section of a UniProtKB entry contains information about variants within a protein and their involvement in disease?
Information on disease-linked variants is mostly restricted to human proteins and is usually found in the ‘Pathology and Biotech’ section.
What is a UniProt designation?
The organism designation consists of the Latin scientific name, usually composed of the genus and species names (the binomial system developed by Linnaeus), followed optionally by the English common name and a synonym. The English common name is used as the scientific name, sometimes followed by an acronym.
What do variants mean in DNA?
(VAYR-ee-unt) Any change in the DNA sequence of a cell. Variants may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Variants can be harmful, beneficial, or have no effect.
What is a protein variant?
A protein isoform, or “protein variant”, is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have unique functions.
What is UniProt used for?
The Universal Protein Resource (UniProt) is a comprehensive resource for protein sequence and annotation data.
What is TrEMBL?
Introduction TrEMBL is a computer-annotated protein sequence database supplementing the SWISS-PROT Protein Sequence Data Bank. TrEMBL contains the translations of all coding sequences (CDS) present in the EMBL Nucleotide Sequence Database not yet integrated in SWISS-PROT.
Which is the most common polymorphic variant in humans?
The sequence displayed by default in the entry (also called the canonical sequence) is usually the most common polymorphic variant or the most conserved in orthologous species. In human and some model organisms, the sequence reported is that of the translation of the official reference genome.
How to save UniProt proteins in a basket?
When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later. More… How do I get the nucleotide sequence that corresponds to the canonical UniProtKB sequence? How do I get the nucleotide sequence that corresponds to the canonical UniProtKB sequence? You cannot!
What is a natural variant of a protein?
Natural variant. This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence. We annotate natural variants, including polymorphisms, variations between strains, isolates or cultivars, disease-associated mutations and RNA editing events.
How to get the sequence that corresponds to the canonical UniProtKB?
In most cases, in the absence of annotation of ‘Sequence conflict’, ‘Variant’, ‘Alternative products’, ‘Sequence caution’, etc., the nucleic acid sequences listed in the ‘Sequence databases’ subsection, when translated, correspond to the canonical sequence, provided they are not fragments. There are some exceptions.