- Course overview
- Search within this course
- What is UniProt?
- Where does the data come from?
- Why do we need UniProt?
- When to use UniProt
- Quiz: Check your learning I
- How to access and navigate UniProt
- How to search UniProt
- Annotation score
- Quiz: Check your learning II
- Exploring a UniProtKB entry
- How to use UniProt tools
- How to get data from UniProt
- How to submit data to UniProt
- Exercise: finding entries with 3D structures
- Exercise: mapping other database identifiers to UniProt
- Summary
- Your feedback
- Get help and support on UniProt
- References
From disease to protein to variant
UniProt makes it easy to identify and retrieve disease-related proteins and the disease-causing variants that they contain. One way to do this is to follow the steps below. In this example, we are interested in finding out about spinal muscular atrophy (SMA2).
On the UniProt website, select ‘Human diseases’ from the drop-down menu next to the search box, add the disease name ‘sma2’ in the search box and click on the ‘Search’ button (Figure 57).
![](https://www.ebi.ac.uk/training/online/courses/uniprot-exploring-protein-sequence-and-functional-info/wp-content/uploads/sites/100/2022/07/Screenshot-2022-07-26-at-14.17.08-1024x255.png)
‘sma2’ is an abbreviation of ‘spinal muscular atrophy 2’ which is the disease that is retrieved by the search. The search returns a link to a page which gives an overview of the disease (Figure 58) and links to resources which can tell you more.
![](https://www.ebi.ac.uk/training/online/courses/uniprot-exploring-protein-sequence-and-functional-info/wp-content/uploads/sites/100/2022/07/Screenshot-2022-07-26-at-14.21.07-1024x492.png)
Click on the ‘View proteins’ link to access a list of all proteins known to be genetically associated with the disease. In this case, currently only 1 protein is linked, survival motor neuron protein (Figure 59).
![](https://www.ebi.ac.uk/training/online/courses/uniprot-exploring-protein-sequence-and-functional-info/wp-content/uploads/sites/100/2022/07/Screenshot-2022-07-26-at-14.24.56-1024x168.png)
![](https://www.ebi.ac.uk/training/online/courses/uniprot-exploring-protein-sequence-and-functional-info/wp-content/uploads/sites/100/2022/07/Screenshot-2022-07-26-at-14.28.17-1024x421.png)
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