Table 1.
Identified missense and nonsense mutations in rhodopsin.
| Mutant | Codon change | a.a change | Codon number | Mutant | Codon change | a.a change | Codon number |
|---|---|---|---|---|---|---|---|
| T4K | ACR-AAA | Thr-Lys | 4 | G106W | GGG-TGG | Gly-Trp | 106 |
| P12R | CCC-CGC | Pro-Arg | 12 | G109R | GGA-AGA | Gly-Arg | 109 |
| N15S | AAT-AGT | Asn-Ser | 15 | C110R | TGC-CGC | Cys-Arg | 110 |
| T17M | ACG-ATG | Thr-Met | 17 | C110Y | TGC-TAC | Cys-Tyr | 110 |
| G18D | GGT-GRT | Gly-Asp | 18 | C110S | TGC-TCC | Cys-Ser | 110 |
| V20G | GTR-GGA | Val-Gly | 20 | C110F | TGC-TTC | Cys-Phe | 110 |
| R21C | CGC-TGC | Arg-Cys | 21 | E113K | GAG-AAG | Glu-Lys | 113 |
| P23H | CCC-CAC | Pro-His | 23 | G114D | GGC-GAC | Gly-Asp | 114 |
| P23L | CCC-CTC | Pro-Leu | 23 | G114V | GGC-GTC | Gly-Val | 114 |
| P23A | CCC-GCC | Pro-Ala | 23 | E122G | GAA-GGR | Glu-Gly | 122 |
| Q28H | CAG-CAC | Gln-His | 28 | L125R | CTG-CGG | Leu-Arg | 125 |
| Q28H | CAG-CAT | Gln-His | 28 | W126Ter | TGG-TGA | Trp-Term | 126 |
| Q28R | CAG-CGG | Gln-Arg | 28 | W126L | TGG-TTG | Trp-Leu | 126 |
| M39R | ATG-AGG | Met-Arg | 39 | S127F | TCC-TTC | Ser-Phe | 127 |
| L40R | CTG-CGG | Leu-Arg | 40 | L131P | CTG-CCG | Leu-Pro | 131 |
| M44T | ATG-ACG | Met-Thr | 44 | R135P | CGG-CCG | Arg-Pro | 135 |
| F45L | TTT-CTT | Phe-Leu | 45 | R135L | CGG-CTG | Arg-leu | 135 |
| L46R | CTG-CGG | Leu-Arg | 46 | R135G | CGG-GCG | Arg-Gly | 135 |
| L47R | CTG-CGG | Leu-Arg | 47 | R135W | CGG-TGG | Arg-Trp | 135 |
| G51R | GGC-CGC | Gly-Arg | 51 | Y136Ter | TAC-TAA | Tyr-Term | 136 |
| G51A | GGC-GCC | Gly-Ala | 51 | V137M | GTG-ATG | Val-Met | 137 |
| G51V | GGC-GTC | Gly-Val | 51 | C140S | TGT-TCT | Cys-Ser | 140 |
| F52V | TTC-GTC | Phe-Val | 52 | R147C | CGC-TGC | Arg-Cys | 147 |
| F52Y | TTC-TAC | Phe-Tyr | 52 | Q150K | GAG-AAG | Glu-Lys | 150 |
| P53R | CCC-CGC | Pro-Arg | 53 | T160T | ACC-ACA | Thr-Thr | 160 |
| F56Y | TTC-TAC | Phe-Tyr | 56 | W161R | TGG-CGG | Trp-Arg | 161 |
| L57R | CTC-CGC | Leu-Arg | 57 | W161Ter | TGG-TAG | Trp-Term | 161 |
| T58R | ACG-AGG | Thr-Arg | 58 | M163T | ATG-ACG | Met-Thr | 163 |
| T58M | ACG-ATG | Thr-Met | 58 | A164E | GCG-GAG | Ala-Glu | 164 |
| Y60Ter | TAC-TAA | Tyr-Ter | 60 | A164V | GCG-GTG | Ala-Val | 164 |
| Q64Ter | CAG-TAG | Gln-Ter | 64 | C167R | TGC-CGC | Cys-Arg | 167 |
| R69H | CGC-CAC | Arg-His | 69 | C167Y | TGC-TAC | Cys-Tyr | 167 |
| N78I | AAC-ATC | Asn-Ile | 78 | C167W | TGC-TGG | Cys-Trp | 167 |
| L79P | CTR-CCR | Leu-Pro | 79 | A169P | GCA-CCA | Ala-Pro | 169 |
| V87L | GTC-CTC | Val-Leu | 87 | P170H | CCC-CAC | Pro-His | 170 |
| V87D | GTC-GAC | Val-Asp | 87 | P170R | CCC-CGC | Pro-Arg | 170 |
| L88P | CTA-CCR | Leu-Pro | 88 | P171Q | CCA-CAA | Pro-Gln | 171 |
| G89R | GGT-CGT | Gly-Arg | 89 | P171L | CCA-CTA | Pro-Leu | 171 |
| G89D | GGT-GAT | Gly-Asp | 89 | P171S | CCA-TCA | Pro-Ser | 171 |
| G90D | GGC-GAC | Gly-Asp | 90 | G174S | GGC-AGC | Gly-Ser | 174 |
| G90V | GGC-GTC | Gly-Val | 90 | S176F | TCC-TTC | Ser-Phe | 176 |
| T92I | ACC-ATC | Thr-Ile | 92 | Y178N | TAC-AAC | Tyr-Asn | 178 |
| T94I | ACC-ATC | Thr-Ile | 94 | Y178D | TAC-GAC | Tyr-Asp | 178 |
| T97I | ACC-ATC | Thr-Ile | 97 | Y178C | TAC-TGC | Tyr-Cys | 178 |
| G101E | GGA-GAA | Gly-Glu | 101 | I179F | ATC-TTC | Ile-Phe | 179 |
| G101V | GGA-GTR | Gly-Val | 101 | P180A | CCC-GCC | Pro-Ala | 180 |
| V104I | GTC-ATC | Val-Ile | 104 | P180S | CCC-TCC | Pro-Ser | 180 |
| V104F | GTC-TTC | Val-Phe | 104 | E181K | GAG-AAG | Glu-Lys | 181 |
| G106R | GGG-AGG | Gly-Arg | 106 | G182S | GGC-AGC | Gly-Ser | 182 |
| G182V | GGC-GTC | Gly-Val | 182 | P291R | CCA-CGA | Pro-Arg | 291 |
| Q184P | CAG-CCG | Gln-Pro | 184 | A292T | GCG-ACG | Ala-Thr | 292 |
| C185R | TGC-CGC | Cys-Arg | 185 | A292E | GCG-GAG | Ala-Glu | 292 |
| S186P | TCG-CCG | Ser-Pro | 186 | A295V | GCC-GTC | Ala-Val | 295 |
| S186W | TCG-TGG | Ser-Trp | 186 | K296N | AAG-AAT | Lys-Asn | 296 |
| C187R | TGT-CGT | Cys-Arg | 187 | K296M | AAG-ATG | Lys-Met | 296 |
| C187G | TGT-GGT | Cys-Gly | 187 | K296E | AAG-GAG | Lys-Glu | 296 |
| C187Y | TGT-TAT | Cys-Tyr | 187 | S297R | AGC-AGA | Ser-Arg | 297 |
| G188R | GGA-AGA | Gly-Arg | 188 | A298D | GCC-GAC | Ala-Asp | 298 |
| G188E | GGA-GAA | Gly-Glu | 188 | A299T | GCC-AAC | Ala-Thr | 299 |
| D190N | GAC-AAC | Asp-Asn | 190 | V304D | GTC-GAC | Val-Asp | 304 |
| D190G | GAC-GGC | Asp-Gly | 190 | K311E | AAG-GAG | Lys-Glu | 311 |
| D190Y | GAC-TAC | Asp-Tyr | 190 | Q312Ter | CAG-TAG | Gln-Term | 312 |
| Y191C | TAC-TGC | Tyr-Cys | 191 | N315K | AAC-AAG | Asn-Lys | 315 |
| T193M | ACG-ATG | Thr-Met | 193 | T320N | ACC-AAC | Thr-Asn | 320 |
| N200K | AAC-AAG | Asn-Lys | 200 | L328P | CTG-CCG | Leu-Pro | 328 |
| F203S | TTT-TCT | Phe-Ser | 203 | A333V | GCC-GTC | Ala-Val | 333 |
| M207K | ATG-AAG | Met-Lys | 207 | T340M | ACG-ATG | Thr-Met | 340 |
| M207R | ATG-AGG | Met-Arg | 207 | E341K | GAG-AAG | Glu-Lys | 341 |
| V209M | GTG-ATG | Val-Met | 209 | E341Ter | GAG-TAG | Glu-Ter | 341 |
| V210F | GTC-TTC | Val-Phe | 210 | T2342M | ACG-ATG | Thr-Met | 342 |
| H211P | CAC-CCC | His-Pro | 211 | S343N | AGC-AAC | Ser-Asn | 343 |
| H211R | CAC-CGC | His-Arg | 211 | S343C | AGC-TGC | Ser-Cys | 343 |
| H211L | CAC-CTC | His-Leu | 211 | Q344P | CAG-CCG | Gln-Pro | 344 |
| I214N | ATC-AAC | Ile-Asn | 214 | Q344R | CAG-CGG | Gln-Arg | 344 |
| P215T | CCC-ACC | Pro-Thr | 215 | Q344Ter | CAG-TAG | Gln-Term | 344 |
| P215L | CCC-CTC | Pro-Leu | 215 | V345M | GTG-ATG | Val-Met | 345 |
| M216K | ATG-AAG | Met-Lys | 216 | V345L | GTG-CTG | Val-Leu | 345 |
| M216R | ATG-AGG | Met-Arg | 216 | V345G | GTG-GGG | Val-Gly | 345 |
| M216L | ATG-TTG | Met-Leu | 216 | V345L | GTG-TTG | Val-Leu | 345 |
| F220C | TTT-TGT | Phe-Cys | 220 | A346P | GCC-CCC | Ala-Pro | 346 |
| C222R | TGC-CGC | Cys-Arg | 222 | P347T | CCG-ACG | Pro-Thr | 347 |
| E249Ter | GAG-TAG | Glu-Term | 249 | P347Q | CCG-CAG | Pro-Gln | 347 |
| R252P | CGC-CCC | Arg-Pro | 252 | P347R | CCG-CGG | Pro-Arg | 347 |
| M253I | ATG-ATT | Met-Ile | 253 | P347L | CCG-CTG | Pro-Leu | 347 |
| P267R | CCC-CGC | Pro-Arg | 267 | P347A | CCG-GCG | Pro-Ala | 347 |
| P267L | CCC-CTC | Pro-Leu | 267 | P347S | CCG-TCG | Pro-Ser | 347 |
| S270R | AGC-AGA | Ser-Arg | 270 | Ter349Q | TAA-CAA | Term-Gln | 349 |
| G284S | GGT-AGT | Gly-Ser | 284 | Ter349E | TAA-GAA | Term-Glu | 349 |
| T289P | ACC-CCC | Thr-Pro | 289 |
a.a: amino acid.