Table V.
Novel IRS-1 variants in colorectal cancer.
| Nucleotide variant | Amino acid change | Allele frequency in CRC patients | Allele frequency in controls | P-value | PoliPhen/SIFT/phylogenetic conservation of IRS-1 wild-type residue | CRC patient code |
|---|---|---|---|---|---|---|
| c.119delG | p.Gly40fs | 1/132 | 0/94 | NS | -/-/disruptive | LoVo |
| c.1676C>T | p.Pro559Leu | 1/94 | 0/94 | NS | Probably damaging/potentially intolerant/complete | 1685K, germline |
| c.1791delG | p.Gly597fs | 6/132 | 0/94 | 0.036 | -/-/disruptive | 1708K, somatic |
| c.1965G>T | p.Gln655His | 3/94 | 0/94 | NS | Possibly damaging/intolerant/complete | DLD1, HCT-15, MIP101 |
| c.2766G>A | p.(=) | 1/94 | 0/94 | NS | NA | CBS |
| c.3041A>G | p.Asp1014Gly | 1/94 | 0/94 | NS | Possibly damaging/intolerant/complete | DLD1 |
| c.3168C>T | p.(=) | 1/94 | 0/94 | NS | NA | DLD1 |
| c.3541G>C | p.Asp1181His | 1/94 | 0/94 | NS | Possibly damaging/potentially intolerant/complete | HCT-15 |
| c.3607C>T | p.Pro1203Ser | 1/94 | 0/94 | NS | Problably damaging/intolerant/complete | SW480 |
| c.3618C>T | p.(=) | 2/94 | 0/94 | NS | NA | Colo205, SW480 |
| IVS1+4C>T | Intron | 3/94 | ND | ND | NA | DLD1, HCT-15, MIP101 |
IRS, insulin receptor substrate; CRC, colorectal cancer; NA, not applicable; ND, not determined; NS, not significant.