Table 2.
Nature of SMAD4 MCR region mutations in 86 colorectal carcinoma patients from Kashmir valley
| Patient ID | Age/Sexa | Dwellingb | Duke's Stagec | Smoking Statusd | Node Statuse | Sitef | Natureg | Pesticide Exposure | SMAD4 Exon | Mutationh | Amino Acid Change | Affected Codon | Effecti | KRAS Status/Affected Codon |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| X01 | 55/M | R | A | NSk | N | C | LS | Y | 2 | TGT > CGT | Cys > Arg | 115 | MS | M; 12 Gly > Asp |
| X06 | 28/M | R | C | Sk | Y | R | S | Y | 8 | CGC > AGC | Arg > Ser | 361 | MS | W |
| X12 | 65/F | R | C | Sk | Y | C | S | Y | 10 | CAG > TAG | Gln > Stop | 442 | NS | W |
| X16 | 62/F | U | C | Sk | Y | C | S | N | 8 | CGC > CAC | Arg > His | 361 | MS | W |
| X17 | 67/F | R | D | Sk | Y | R | S | Y | 8 | TTT>TTG | Phe > Leu | 362 | MS | M; 12 Gly > Asp |
| X30 | 44/F | R | D | Sk | Y | C | S | Y | 8 | TGT > AGT | Cys > Ser | 363 | MS | M; 12 Gly > Asp |
| X31 | 64/M | R | C | Sk | Y | C | FAP | Y | 8 | GGT > GAT | Gly > Asp | 341 | MS | W |
| X43 | 80/F | U | D | Sk | Y | R | S | Y | 10 | GCT>GCC | Ala >Ala | 456 | S | W |
| X47 | 60/F | R | B | Sk | N | C | S | Y | 11 | AAAGGC > AATTGC | Lys > Asn; Gly > Cys | 507/8 | MS | M; 13 Gly > Cys |
| X51 | 58/M | R | C | Sk | Y | C | S | Y | 11 | GGC > AGC | Gly > Ser | 508 | MS | M; 12 Gly > Ser |
| X56 | 45/M | U | D | Sk | Y | R | S | Y | 9 | TGG > GGG | Trp > Gly | 419 | MS | M; 19 Leu > Phe |
| X57 | 40/M | R | D | Sk | Y | C | FAP | N | 9 | AGACAGAG > AGAG | Deletion | 415/16 << | FS | M; 16 Lys > Stop |
| X65 | 43/M | R | C | NSk | Y | C | S | Y | 8 | CGC > CAC | Arg > His | 361 | MS | M; 19 Leu > Phe |
| X75 | 55/F | R | C | NSk | Y | C | S | Y | 11 | AAA > CAA | Lys > Gln | 507 | MS | M; 13 Gly > Arg |
| X85 | 38/M | U | C | Sk | Y | C | S | N | 9 | AGA > AAA | Arg > Lys | 415 | MS | M; 16 Lys > Stop |
| X86 | 60/M | R | D | Sk | Y | C | S | Y | 10 | CGA > TGA | Arg > Stop | 445 | NS | M; 12 Gly > Ala |
aAge/Sex: M = Male, F = Female; bDwelling: R = Rural, U = Urban; cDuke's stage: A - Tumor confined to the intestinal wall; B - Tumor invading through the intestinal wall; C - With lymph node(s) involvement; D - With distant metastasis; dSmoking Status: Sk: Smokers; NSk: Non Smokers; eNode Status: N = Negative, P = Positive; fSite of tumor: C = Colon, R = Rectum; gNature of tumor: S: Sporadic; LS: Lynch Syndrome; FAP: Familial Adenomatous Polyposis; hMutation: Mutated or inserted nucleotide underlined; hMutation Effect: MS: Missense mutation; NS: Nonsense mutation; S: Silent mutation; FS: Frameshift mutation.