Functional consequences of the CLDN16 mutations
| Patient | Gender | Predicted Change | Predicted Function | Patient | Gender | Predicted Change | Predicted Function | ||
|---|---|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | Allele 1 | Allele 2 | ||||||
| F03 | F | p.G198D | p.G198D | CL/CL | F02-1 | F | p.L151F | p.L151W | PL/PL |
| F04 | F | p.G239R | p.G239R | CL/CL | F02-2 | M | p.L151F | p.L151W | PL/PL |
| F09-1 | F | p.R216T | p.R216T | CL/CL | F07-1 | M | p.L151F | p.L151F | PL/PL |
| F09-2 | M | p.R216T | p.R216T | CL/CL | F07-2 | M | p.L151F | p.L151F | PL/PL |
| F10 | F | p.L145P | p.L145P | CL/CL | F08-1 | M | p.H141D | p.H141D | PL/PL |
| F11 | F | p.G239R | p.G239R | CL/CL | F08-2 | F | p.H141D | p.H141D | PL/PL |
| F15 | F | p.R149L | p.R149L | CL/CL | F13 | M | p.L151F | p.L151F | PL/PL |
| F21-1 | M | p.L145P | p.D123fs | CL/CL | F14-1 | F | p.L151F | p.L151F | PL/PL |
| F21-2 | F | p.L145P | p.D123fs | CL/CL | F14-2 | F | p.L151F | p.L151F | PL/PL |
| F32-1 | M | p.G239R | p.G239R | CL/CL | F17 | F | p.L151F | p.L151F | PL/PL |
| F32-2 | M | p.G239R | p.G239R | CL/CL | F18 | F | p.L151F | p.L151F | PL/PL |
| F62 | M | p.A80fsX91 | p.A80fsX91 | CL/CL | F22 | F | p.L151F | p.L151F | PL/PL |
| F66 | M | p.W237X | p.W237X | CL/CL | F25 | M | p.L151F | p.L151F | PL/PL |
| F69-1 | M | p.R216C | Splice site | CL/CL | F29 | F | p.L151F | p.L151F | PL/PL |
| F69-2 | F | p.R216C | Splice site | CL/CL | F30 | F | p.L151F | p.L151F | PL/PL |
| F78-1 | M | p.M71Ta | p.M71Ta | CL/CL | F33 | M | p.L151F | p.L151F | PL/PL |
| F79-1 | F | p.M71Ta | p.M71Ta | CL/CL | F56 | F | p.R114Q | p.R114Q | PL/PL |
| F80-1 | F | p.M71Ta | p.M71Ta | CL/CL | F60 | F | p.L151F | p.A209T | PL/PL |
| F80-2 | F | p.M71Ta | p.M71Ta | CL/CL | F64 | F | p.L151F | p.S110R | PL/PL |
| F80-3 | M | p.M71Ta | p.M71Ta | CL/CL | F70 | F | p.G227R | p.G227R | PL/PL |
| F81-1 | F | p.M71Ta | p.M71Ta | CL/CL | F74-1 | M | p.L151F | p.L151F | PL/PL |
| F81-2 | M | p.M71Ta | p.M71Ta | CL/CL | F74-2 | F | p.L151F | p.L151F | PL/PL |
| F88-1 | M | p.C131R | p.C131R | CL/CL | F74-3 | M | p.L151F | p.L151F | PL/PL |
| F83-1 | F | p.L151F | p.L151F | PL/PL | |||||
| F01-1 | F | p.L151F | p.W117X | PL/CL | F83-2 | F | p.L151F | p.L151F | PL/PL |
| F01-2 | F | p.L151F | p.W117X | PL/CL | F83-3 | M | p.L151F | p.L151F | PL/PL |
| F05-1 | F | p.L151F | p.L145P | PL/CL | F87-1 | M | p.L151F | p.L151F | PL/PL |
| F05-2 | F | p.L151F | p.L145P | PL/CL | F87-2 | M | p.L151F | p.L151F | PL/PL |
| F06 | M | p.L151F | p.G239R | PL/CL | F87-3 | M | p.L151F | p.L151F | PL/PL |
| F12 | M | p.A209T | p.L145P | PL/CL | |||||
| F16 | F | p.L151F | Splice site | PL/CL | F34 | F | p.R129C | p.L151F | PL/X |
| F20 | M | p.L151F | p.L145P | PL/CL | F37-1 | M | p.L151F | ? | PL/X |
| F23 | M | p.L151F | p.S235P | PL/CL | F37-2 | M | p.L151F | ? | PL/X |
| F71 | M | p.L151F | p.L145P | PL/CL | F61-1 | M | p.L151F | ? | PL/X |
| F72 | F | p.L151F | p.I137del | PL/CL | F61-2 | F | p.L151F | ? | PL/X |
| F77 | M | p.L151F | p.G88Q | PL/CL | F19 | M | Splice site | ? | CL/X |
↵a Loss of translation start site.