Example 1 (continued)

The HbVar database records information about mutations in the beta- and alpha-globin gene loci, such as the name, the nucleotides that are altered, and changes in the structure and function of the encoded protein. It is a more mature and extensive database than GenPhen, and (almost) all of its entries are connected to the corresponding regions in the UCSC Genome Browser.

This image shows partial data from the HbVar page (the full entry can be viewed at HbVar ID 1058). The indicated button will take you to the Genome Browser with this mutation displayed as a user track.

Note that some of the information in GenPhen is also in HbVar; the main distinction between the databases is that GenPhen is oriented toward anonymized patient data whereas HbVar is focused on the mutations. Thus GenPhen can have many individuals with the same mutation to capture the range of phenotypic variation.

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