UniProt release 7.1

Over 25'000 protein polymorphisms annotated in UniProtKB/Swiss-Prot

UniProtKB/Swiss-Prot pays a particular attention to the annotation of protein polymorphisms as well as disease mutations, due to their importance for the understanding of genetic diseases. Information on genetic variations and diseases is annotated in the comment section under the topic CC DISEASE and in the feature table using the key FT VARIANT. Literature reports used for data extraction are also cited in the entry, and data are manually checked prior to integration into the knowledgebase. Links to OMIM are provided whenever possible. As UniProtKB/Swiss-Prot is a 'proteocentric' resource, we do not annotate frameshifts or nonsense mutations as their deleterious effect on the protein is usually obvious. We therefore concentrate on tracking and storing data on amino acid substitutions, small deletions or insertions.

We have currently reached a total of 25'255 variants in 4'196 human sequences: 98% of the variants are single amino acid polymorphisms (SAP). Association of a variant with a disease is annotated according to literature reports. In the current release, 13'581 SAPs are disease-associated, 9'451 are neutral polymorphisms and 1'816 are unclassified.