Table 1. Non-synonymous germline EPHB2 missense changes identified in familial and random colorectal cancer cases.
Missense Change | Residue Substitution | Exon | Domain | Familial Colorectal Cancer Cases | Random Colorectal Cancer Cases | Control Subjects |
nt. 1312 G→A | A438T | 6 | Extracellular Fibronectin TypeIII Domain | 1/116 | 0/364 | 0/384 |
nt. 2035 G→A | D679N | 11 | Protein Kinase Domain | 3/116 | 11/1160 | 11/1133 |
nt. 2359 G→A | G787R | 13 | Protein Kinase Domain | 1/116 | 0/182 | 0/199 |
nt. 2833 G→A | *V945I | 15 | SAM Domain | 2/116 | Not determined | Not determined |
A conservative residue substitution (V945I).