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. 2013 Jul 18;30(4):1553–1560. doi: 10.3892/or.2013.2626

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.