Table 3.

Functional consequences of the CLDN16 mutations

PatientGenderPredicted ChangePredicted FunctionPatientGenderPredicted ChangePredicted Function
Allele 1Allele 2Allele 1Allele 2
F03Fp.G198Dp.G198DCL/CLF02-1Fp.L151Fp.L151WPL/PL
F04Fp.G239Rp.G239RCL/CLF02-2Mp.L151Fp.L151WPL/PL
F09-1Fp.R216Tp.R216TCL/CLF07-1Mp.L151Fp.L151FPL/PL
F09-2Mp.R216Tp.R216TCL/CLF07-2Mp.L151Fp.L151FPL/PL
F10Fp.L145Pp.L145PCL/CLF08-1Mp.H141Dp.H141DPL/PL
F11Fp.G239Rp.G239RCL/CLF08-2Fp.H141Dp.H141DPL/PL
F15Fp.R149Lp.R149LCL/CLF13Mp.L151Fp.L151FPL/PL
F21-1Mp.L145Pp.D123fsCL/CLF14-1Fp.L151Fp.L151FPL/PL
F21-2Fp.L145Pp.D123fsCL/CLF14-2Fp.L151Fp.L151FPL/PL
F32-1Mp.G239Rp.G239RCL/CLF17Fp.L151Fp.L151FPL/PL
F32-2Mp.G239Rp.G239RCL/CLF18Fp.L151Fp.L151FPL/PL
F62Mp.A80fsX91p.A80fsX91CL/CLF22Fp.L151Fp.L151FPL/PL
F66Mp.W237Xp.W237XCL/CLF25Mp.L151Fp.L151FPL/PL
F69-1Mp.R216CSplice siteCL/CLF29Fp.L151Fp.L151FPL/PL
F69-2Fp.R216CSplice siteCL/CLF30Fp.L151Fp.L151FPL/PL
F78-1Mp.M71Tap.M71TaCL/CLF33Mp.L151Fp.L151FPL/PL
F79-1Fp.M71Tap.M71TaCL/CLF56Fp.R114Qp.R114QPL/PL
F80-1Fp.M71Tap.M71TaCL/CLF60Fp.L151Fp.A209TPL/PL
F80-2Fp.M71Tap.M71TaCL/CLF64Fp.L151Fp.S110RPL/PL
F80-3Mp.M71Tap.M71TaCL/CLF70Fp.G227Rp.G227RPL/PL
F81-1Fp.M71Tap.M71TaCL/CLF74-1Mp.L151Fp.L151FPL/PL
F81-2Mp.M71Tap.M71TaCL/CLF74-2Fp.L151Fp.L151FPL/PL
F88-1Mp.C131Rp.C131RCL/CLF74-3Mp.L151Fp.L151FPL/PL
F83-1Fp.L151Fp.L151FPL/PL
F01-1Fp.L151Fp.W117XPL/CLF83-2Fp.L151Fp.L151FPL/PL
F01-2Fp.L151Fp.W117XPL/CLF83-3Mp.L151Fp.L151FPL/PL
F05-1Fp.L151Fp.L145PPL/CLF87-1Mp.L151Fp.L151FPL/PL
F05-2Fp.L151Fp.L145PPL/CLF87-2Mp.L151Fp.L151FPL/PL
F06Mp.L151Fp.G239RPL/CLF87-3Mp.L151Fp.L151FPL/PL
F12Mp.A209Tp.L145PPL/CL
F16Fp.L151FSplice sitePL/CLF34Fp.R129Cp.L151FPL/X
F20Mp.L151Fp.L145PPL/CLF37-1Mp.L151F?PL/X
F23Mp.L151Fp.S235PPL/CLF37-2Mp.L151F?PL/X
F71Mp.L151Fp.L145PPL/CLF61-1Mp.L151F?PL/X
F72Fp.L151Fp.I137delPL/CLF61-2Fp.L151F?PL/X
F77Mp.L151Fp.G88QPL/CLF19MSplice site?CL/X
  • a Loss of translation start site.