Table 1 Mutations used for web searches
Mutation number | Gene name | Gene symbol | Disorder | Amino acid number | Amino acid change |
|---|---|---|---|---|---|
1 | Phenylalanine Hydroxylase | PAH | Phenylketonuria | 148 | Glycine/ serine |
2 | mutL homolog 1 | MLH1 | Hereditary nonpolyposis colon cancer | 62 | Glutamine/ lysine |
3 | mutL homolog 1 | MLH1 | Hereditary non-polyposis colon cancer | 618 | Lysine/ alanine |
4 | Breast cancer type 2 susceptibility protein | BRCA2 | Breast cancer | 2723 | Aspartic acid/ histidine |
5 | Breast cancer 1, early onset | BRCA1 | Breast cancer | 772 | Valine/ alanine |