Table 2 Summary of nsSNPs used in our disease-specific mutation datasets
From: Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Dataset | Number of proteins | Number of amino acid substitutions |
|---|---|---|
Human Gene Mutation Database (HGMD) | Â | Â |
 Blood | 99 | 1,474 |
 Blood coagulation | 45 | 3,508 |
 Developmental | 188 | 1,199 |
 Digestive | 116 | 1,850 |
 Ear, nose and throat | 113 | 943 |
 Endocrine | 192 | 3,913 |
 Eye | 227 | 3,031 |
 Genitourinary | 166 | 3,031 |
 Heart | 247 | 3,743 |
 Immune | 75 | 1,293 |
 Metabolic | 485 | 13,797 |
 Musculoskeletal | 309 | 6,110 |
 Nervous system | 473 | 8,553 |
 Psychiatric | 163 | 747 |
 Reproductive | 88 | 883 |
 Respiratory | 44 | 775 |
 Skin | 164 | 3,183 |
SwissProt/TrEMBL | Â | Â |
 Putative neutral polymorphisms | 11,601 | 37,488 |