Secretion profile of mutant retinoschisin
| Mutations | Base changes | Amino acid changes | Secretion | Mutation affects conserved residue | Discoidin domain |
|---|---|---|---|---|---|
| *Published previously.15 | |||||
| L12H* | GGG-GAG | Leu-His | − | − | No |
| C59S* | TGT-AGT | Cys-Ser | + | − | No |
| G70S* | TGT-AGT | Gly-Ser | − | + | Yes |
| Y89C | TAT-TGT | Tyr-Cys | − | − | Yes |
| W92C | TGG-TGC | Trp-Cys | − | + | Yes |
| W96R | TGG-CGG | Trp-Arg | − | + | Yes |
| R102W* | CGG-TGG | Arg-Trp | − | + | Yes |
| N104K | AAC-AAG | Asn-Lys | − | + | Yes |
| F108C | TTT-TGT | Phe-Cys | + | − | Yes |
| G109R* | GGG-CGG | Gly-Arg | − | − | Yes |
| G109E | GGG-GAG | Gly-Glu | − | − | Yes |
| C110Y | TGT-TAT | Cys-Tyr | − | − | Yes |
| W112C | TGG-TGT | Trp-Cys | − | + | Yes |
| L113F | CTC-TTC | Leu-Phe | − | − | Yes |
| R141H | CGC-CAC | Arg-His | + | − | Yes |
| R141G* | CGC-GGC | Arg-Gly | + | − | Yes |
| C142W* | TGT-TGG | Cys-Trp | − | + | Yes |
| D143V | GAC-GTC | Asp-Val | − | − | Yes |
| R182C | CGC-TGC | Arg-Cys | + | − | Yes |
| H207Q | CAC-CAG | His-Gln | + | − | Yes |
| R209H | CGC-CAC | Arg-His | + | − | Yes |
| R213W | CGG-TGG | Arg-Trp | − | + | Yes |
| C219G | TGC-GGC | Cys-Gly | + | + | Yes |
| C223R | TGT-CGT | Cys-Arg | + | − | No |