Table 1. Examples of genes and SNVs mapped by MuPIT onto protein structures.
SNVs were taken from PharmGKB,
| Source | Gene Symbol | Genomic Coordinate (NCBI GRCh37) | Protein Structure Residue Coordinate |
|---|---|---|---|
|
| |||
| PharmGKB | GSTP1 | chr11: 67352689 | 3gss: 104 |
|
| |||
| NAT2 | chr8: 18258370 | 2pfr: 286 | |
|
| |||
| Cancer Genome Atlas breast invasive cancer study | RUNX1 | chr21: 36252860 | 1h9d: 141 |
| chr21: 36252946 | 1h9d: 112 | ||
| chr21: 36252880 | 1h9d: 134 | ||
| chr21: 36231791 | 1h9d: 171 | ||
| chr21: 36252958 | 1h9d: 108 | ||
|
| |||
| ERBB2 | chr17: 37880220 | 3pp0: 755 | |
| chr17: 37881000 | 3pp0: 777 | ||
| chr17: 37881332 | 3pp0: 842 | ||
| chr17: 37880261 | 3pp0: 769 | ||
|
| |||
| CHEK2 | chr22: 29092948 | 2cn5: 346 | |
|
| |||
| ESP6500 with MAF<1% | HRH1 | chr3: 11300949 | 3rze:76 |
| chr3: 11300958 | 3rze:79 | ||
| chr3: 11301303 | 3rze:194 | ||
| chr3: 11301309 | 3rze:196 | ||
|
| |||
| SCN5A | chr3: 38592152 | 4dck: 1904 | |
| chr3: 38592162 | 4dck: 1901 | ||
| chr3: 38592170 | 4dck: 1898 | ||
| chr3: 38592171 | 4dck: 1898 | ||
| chr3: 38592174 | 4dck: 1897 | ||
| chr3: 38592339 | 4dck: 1842 | ||
| chr3: 38592356 | 4dck: 1836 | ||
| chr3: 38592369 | 4dck: 1832 | ||
| chr3: 38592386 | 4dck: 1826 | ||
| chr3: 38592387 | 4dck: 1826 | ||
| chr3: 38592428 | 4dck: 1812 | ||
| chr3: 38592474 | 4dck: 1797 | ||