Table 1.
Summary of mutation datasets (comprising exclusively human missense mutations) used in the analysis. See text for full descriptions and sources of datasets.
| Name of dataset | Description | Number of amino acid substitutions (AAS) |
Number of distinct genes |
|---|---|---|---|
|
Inherited disease |
Heritable disease-causing mutations from HGMD |
29,485 | 1,485 |
|
Disease- associated polymorphisms |
Heritable disease-associated polymorphisms from HGMD, of putative functional significance |
761 | 496 |
|
Functional polymorphisms |
Heritable polymorphisms of functional significance from HGMD but with (as yet) no reported disease phenotype |
893 | 177 |
| Kinase | Somatic mutations in kinase genes identified in an analysis of >200 individual tumours |
695 | 312 |
| Cancer | Somatic mutations from breast and colorectal cancer tumours |
1,099 | 847 |
|
Swiss-Prot neutral |
Validated polymorphic AAS from Swiss-Prot annotated as ‘polymorphism’. |
8,509 | 4,864 |