Sites of PK Point Mutations That Cause Enzyme Deficiency
| cDNA nt Substitution . | Amino Acid Substitution . | Domain . | Reference . |
|---|---|---|---|
| 238 T → C | Ser 80 Pro | A | 15 |
| 320 T → C | Met 107 Thr | A | 15 |
| 343 G → C | Ala 115 Pro | A | 16 |
| 359 C → T | Ser 120 Phe | A | 16 |
| 401 T → A | Val 134 Asp | A | 15 |
| 476 G → T | Gly 159 Val | A | This study |
| 464 T → C | Leu 155 Pro | A | 15 |
| 487 C → T | Arg 163 Cys | B | 15 |
| 514 G → C | 3-150Glu 172 Gln | B | 17 |
| 787 G → A | 3-150Gly 263 Arg | B | 4 |
| 787 G → T | 3-150Gly 263 Trp | B | 17 |
| 823 G → C | Gly 275 Arg | A | 15 |
| 823 G → A | Gly 275 Arg | A | 17 |
| 841 G → A | Asp 281 Asn | A | 15 |
| 859 T → G | Phe 287 Val | A | 15 |
| 884 G → T | Ala 295 Val | A | This study |
| 941 T → C | Ile 314 Thr | A | 15 |
| 943 G → A | Glu 315 Lys | A | This study |
| 993 C → A | Asp 331 Glu | A | 15 |
| 994 G → A | Gly 332 Ser | A | 4, 15 |
| 1006 G → T | Ala 336 Ser | A | 4, 15 |
| 1010 G → C | Arg 337 Pro | A | 15 |
| 1010 G → A | Arg 337 Gln | A | 4 |
| 1022 G → A | Gly 341 Asp | A | This study |
| 1022 G → C | Gly 341 Ala | A | 15 |
| 1075 C → T | Arg 359 Cys | A | 15 |
| 1076 G → A | Arg 359 His | A | 15 |
| 1081 A → G | Asn 361 Asp | A | 4, 15 |
| 1091 G → A | Gly 364 Asp | A | 18 |
| 1102 G → T | Val 368 Phe | A | 15 |
| 1127 G → T | Ser 376 Ile | A | 4 |
| 1151 C → T | Thr 384 Met | A | 15 |
| 1168 G → A | Asp 390 Asn | A | 15, 17 |
| 1174 G → A | Ala 392 Thr | A | 4, 15 |
| 1178 A → G | Asn 393 Ser | A | 15, 16 |
| 1179 T → A | Asn 393 Lys | A | 15 |
| 1261 C → A | Gln 421 Lys | A | 15 |
| 1276 C → T | Arg 426 Trp | A | 15 |
| 1277 G → A | Arg 426 Gln | A | 15 |
| 1281 G → T | Glu 427 Asp | A | 4 |
| 1373 G → A | Gly 458 Asp | C | 15 |
| 1376 C → T | 3-150Ala 459 Val | C | 15 |
| 1378 G → A | Val 460 Met | C | 15 |
| 1403 C → T | Ala 468 Val | C | 15 |
| 1454 C → T | 3-150Ser 485 Phe | C | 4 |
| 1456 C → T | Arg 486 Trp | C | 4, 15 |
| 1468 C → T | Arg 490 Trp | C | 15 |
| 1484 C → T | Ala 495 Val | C | 15 |
| 1493 G → A | Arg 498 His | C | 4, 15 |
| 1511 G → T | Arg 504 Leu | C | This study |
| 1529 G → A | Arg 510 Gln | C | 4, 15, 16, 18 |
| 1552 C → A | 3-150Arg 518 Ser | C | 15, 17 |
| 1594 C → T | Arg 532 Trp | C | 4, 15 |
| 1654 G → A | Val 552 Met | C | 15 |
| 1675 C → G | Arg 559 Gly | C | 15 |
| 1698 C → A | Asn 566 Lys | C | 15 |
| cDNA nt Substitution . | Amino Acid Substitution . | Domain . | Reference . |
|---|---|---|---|
| 238 T → C | Ser 80 Pro | A | 15 |
| 320 T → C | Met 107 Thr | A | 15 |
| 343 G → C | Ala 115 Pro | A | 16 |
| 359 C → T | Ser 120 Phe | A | 16 |
| 401 T → A | Val 134 Asp | A | 15 |
| 476 G → T | Gly 159 Val | A | This study |
| 464 T → C | Leu 155 Pro | A | 15 |
| 487 C → T | Arg 163 Cys | B | 15 |
| 514 G → C | 3-150Glu 172 Gln | B | 17 |
| 787 G → A | 3-150Gly 263 Arg | B | 4 |
| 787 G → T | 3-150Gly 263 Trp | B | 17 |
| 823 G → C | Gly 275 Arg | A | 15 |
| 823 G → A | Gly 275 Arg | A | 17 |
| 841 G → A | Asp 281 Asn | A | 15 |
| 859 T → G | Phe 287 Val | A | 15 |
| 884 G → T | Ala 295 Val | A | This study |
| 941 T → C | Ile 314 Thr | A | 15 |
| 943 G → A | Glu 315 Lys | A | This study |
| 993 C → A | Asp 331 Glu | A | 15 |
| 994 G → A | Gly 332 Ser | A | 4, 15 |
| 1006 G → T | Ala 336 Ser | A | 4, 15 |
| 1010 G → C | Arg 337 Pro | A | 15 |
| 1010 G → A | Arg 337 Gln | A | 4 |
| 1022 G → A | Gly 341 Asp | A | This study |
| 1022 G → C | Gly 341 Ala | A | 15 |
| 1075 C → T | Arg 359 Cys | A | 15 |
| 1076 G → A | Arg 359 His | A | 15 |
| 1081 A → G | Asn 361 Asp | A | 4, 15 |
| 1091 G → A | Gly 364 Asp | A | 18 |
| 1102 G → T | Val 368 Phe | A | 15 |
| 1127 G → T | Ser 376 Ile | A | 4 |
| 1151 C → T | Thr 384 Met | A | 15 |
| 1168 G → A | Asp 390 Asn | A | 15, 17 |
| 1174 G → A | Ala 392 Thr | A | 4, 15 |
| 1178 A → G | Asn 393 Ser | A | 15, 16 |
| 1179 T → A | Asn 393 Lys | A | 15 |
| 1261 C → A | Gln 421 Lys | A | 15 |
| 1276 C → T | Arg 426 Trp | A | 15 |
| 1277 G → A | Arg 426 Gln | A | 15 |
| 1281 G → T | Glu 427 Asp | A | 4 |
| 1373 G → A | Gly 458 Asp | C | 15 |
| 1376 C → T | 3-150Ala 459 Val | C | 15 |
| 1378 G → A | Val 460 Met | C | 15 |
| 1403 C → T | Ala 468 Val | C | 15 |
| 1454 C → T | 3-150Ser 485 Phe | C | 4 |
| 1456 C → T | Arg 486 Trp | C | 4, 15 |
| 1468 C → T | Arg 490 Trp | C | 15 |
| 1484 C → T | Ala 495 Val | C | 15 |
| 1493 G → A | Arg 498 His | C | 4, 15 |
| 1511 G → T | Arg 504 Leu | C | This study |
| 1529 G → A | Arg 510 Gln | C | 4, 15, 16, 18 |
| 1552 C → A | 3-150Arg 518 Ser | C | 15, 17 |
| 1594 C → T | Arg 532 Trp | C | 4, 15 |
| 1654 G → A | Val 552 Met | C | 15 |
| 1675 C → G | Arg 559 Gly | C | 15 |
| 1698 C → A | Asn 566 Lys | C | 15 |
Nucleotides (and amino acids) are numbered from the upstream ATG (and methionine). The numbering from Rouger et al16 has been adjusted to conform to this convention.
Positions that are not conserved in cat and rabbit PKs.