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Disease symptoms

Now we will look for the symptoms of any disease associated with mutations in our protein.

On the UniProtKB/Swiss-Prot page find the protein's MIM code. This will be located near the details of any disease the protein is involved in. There is another MIM code associated with any mutations known in the protein. Click on the one related to disease.

This will take you to the corresponding Online Mendelian Inheritance in Man (OMIM) entry. The OMIM database is a catalog of human genes and genetic disorders, giving information on clinical features, inheritance, diagnosis, literature references, etc.

Record the following information:

The OMIM code for mutations in this protein
The OMIM code for assoicated phenotypes for mutations in this protein
Key symptoms of the disease
Are mutations in this protein dominant or recessive
The chromosomal locus of the gene
The biochemical problem caused by mutations in the gene
Historical figures believed to have suffered from the disease

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