The hprt gene is located on the long arm of the X chromosome, it's exact position is at Xq26.1.
The information in a gene is coded as a chain of four letters (A, G, C, and T), which are abbreviations for four corresponding molecules (adenine, guanine, cytosine and thymine) residues, in a specific order. Body cells use this information to assemble proteins from amino acids. Proteins form the machinery of a cell, and each protein serves a specific function. See here for more information on what the protein HPRT does.
The following table shows the genetic code for the hprt gene and the amino acid sequence for the protein. Using the genetic code, it is possible to predict the amino acid changes for specific mutations. A detailed list of known mutations is available in the Research section.
Exon | Position | Base | Codon | Aminoacid |
1 | 1 | A | ||
1 | 2 | T | 1 | met |
1 | 3 | G | ||
1 | 4 | G | ||
1 | 5 | C | 2 | ala |
1 | 6 | G | ||
1 | 7 | A | ||
1 | 8 | C | 3 | thr |
1 | 9 | C | ||
1 | 10 | C | ||
1 | 11 | G | 4 | arg |
1 | 12 | C | ||
1 | 13 | A | ||
1 | 14 | G | 5 | ser |
1 | 15 | C | ||
1 | 16 | C | ||
1 | 17 | C | 6 | pro |
1 | 18 | T | ||
1 | 19 | G | ||
1 | 20 | G | 7 | gly |
1 | 21 | C | ||
1 | 22 | G | ||
1 | 23 | T | 8 | val |
1 | 24 | C | ||
1 | 25 | G | ||
1 | 26 | T | 9 | val |
1 | 27 | G | ||
2 | 28 | A | ||
2 | 29 | T | 10 | ile |
2 | 30 | T | ||
2 | 31 | A | ||
2 | 32 | G | 11 | ser |
2 | 33 | T | ||
2 | 34 | G | ||
2 | 35 | A | 12 | asp |
2 | 36 | T | ||
2 | 37 | G | ||
2 | 38 | A | 13 | asp |
2 | 39 | T | ||
2 | 40 | G | ||
2 | 41 | A | 14 | glu |
2 | 42 | A | ||
2 | 43 | C | ||
2 | 44 | C | 15 | pro |
2 | 45 | A | ||
2 | 46 | G | ||
2 | 47 | G | 16 | gly |
2 | 48 | T | ||
2 | 49 | T | ||
2 | 50 | A | 17 | tyr |
2 | 51 | T | ||
2 | 52 | G | ||
2 | 53 | A | 18 | asp |
2 | 54 | C | ||
2 | 55 | C | ||
2 | 56 | T | 19 | leu |
2 | 57 | T | ||
2 | 58 | G | ||
2 | 59 | A | 20 | asp |
2 | 60 | T | ||
2 | 61 | T | ||
2 | 62 | T | 21 | leu |
2 | 63 | A | ||
2 | 64 | T | ||
2 | 65 | T | 22 | phe |
2 | 66 | T | ||
2 | 67 | T | ||
2 | 68 | G | 23 | cys |
2 | 69 | C | ||
2 | 70 | A | ||
2 | 71 | T | 24 | ile |
2 | 72 | A | ||
2 | 73 | C | ||
2 | 74 | C | 25 | pro |
2 | 75 | T | ||
2 | 76 | A | ||
2 | 77 | A | 26 | asn |
2 | 78 | T | ||
2 | 79 | C | ||
2 | 80 | A | 27 | his |
2 | 81 | T | ||
2 | 82 | T | ||
2 | 83 | A | 28 | tyr |
2 | 84 | T | ||
2 | 85 | G | ||
2 | 86 | C | 29 | ala |
2 | 87 | T | ||
2 | 88 | G | ||
2 | 89 | A | 30 | glu |
2 | 90 | G | ||
2 | 91 | G | ||
2 | 92 | A | 31 | asp |
2 | 93 | T | ||
2 | 94 | T | ||
2 | 95 | T | 32 | leu |
2 | 96 | G | ||
2 | 97 | G | ||
2 | 98 | A | 33 | glu |
2 | 99 | A | ||
2 | 100 | A | ||
2 | 101 | G | 34 | arg |
2 | 102 | G | ||
2 | 103 | G | ||
2 | 104 | T | 35 | val |
2 | 105 | G | ||
2 | 106 | T | ||
2 | 107 | T | 36 | phe |
2 | 108 | T | ||
2 | 109 | A | ||
2 | 110 | T | 37 | ile |
2 | 111 | T | ||
2 | 112 | C | ||
2 | 113 | C | 38 | pro |
2 | 114 | T | ||
2 | 115 | C | ||
2 | 116 | A | 39 | his |
2 | 117 | T | ||
2 | 118 | G | ||
2 | 119 | G | 40 | gly |
2 | 120 | A | ||
2 | 121 | C | ||
2 | 122 | T | 41 | leu |
2 | 123 | A | ||
2 | 124 | A | ||
2 | 125 | T | 42 | ile |
2 | 126 | T | ||
2 | 127 | A | ||
2 | 128 | T | 43 | met |
2 | 129 | G | ||
2 | 130 | G | ||
2 | 131 | A | 44 | asp |
2 | 132 | C | ||
2 | 133 | A | ||
2 | 134 | G | 45 | arg |
2 | 135 | G | ||
3 | 136 | A | ||
3 | 137 | C | 46 | thr |
3 | 138 | T | ||
3 | 139 | G | ||
3 | 140 | A | 47 | glu |
3 | 141 | A | ||
3 | 142 | C | ||
3 | 143 | G | 48 | arg |
3 | 144 | T | ||
3 | 145 | C | ||
3 | 146 | T | 49 | leu |
3 | 147 | T | ||
3 | 148 | G | ||
3 | 149 | C | 50 | ala |
3 | 150 | T | ||
3 | 151 | C | ||
3 | 152 | G | 51 | arg |
3 | 153 | A | ||
3 | 154 | G | ||
3 | 155 | A | 52 | asp |
3 | 156 | T | ||
3 | 157 | G | ||
3 | 158 | T | 53 | val |
3 | 159 | G | ||
3 | 160 | A | ||
3 | 161 | T | 54 | met |
3 | 162 | G | ||
3 | 163 | A | ||
3 | 164 | A | 55 | lys |
3 | 165 | G | ||
3 | 166 | G | ||
3 | 167 | A | 56 | glu |
3 | 168 | G | ||
3 | 169 | A | ||
3 | 170 | T | 57 | met |
3 | 171 | G | ||
3 | 172 | G | ||
3 | 173 | G | 58 | gly |
3 | 174 | A | ||
3 | 175 | G | ||
3 | 176 | G | 59 | gly |
3 | 177 | C | ||
3 | 178 | C | ||
3 | 179 | A | 60 | his |
3 | 180 | T | ||
3 | 181 | C | ||
3 | 182 | A | 61 | his |
3 | 183 | C | ||
3 | 184 | A | ||
3 | 185 | T | 62 | ile |
3 | 186 | T | ||
3 | 187 | G | ||
3 | 188 | T | 63 | val |
3 | 189 | A | ||
3 | 190 | G | ||
3 | 191 | C | 64 | ala |
3 | 192 | C | ||
3 | 193 | C | ||
3 | 194 | T | 65 | leu |
3 | 195 | C | ||
3 | 196 | T | ||
3 | 197 | G | 66 | cys |
3 | 198 | T | ||
3 | 199 | G | ||
3 | 200 | T | 67 | val |
3 | 201 | G | ||
3 | 202 | C | ||
3 | 203 | T | 68 | leu |
3 | 204 | C | ||
3 | 205 | A | ||
3 | 206 | A | 69 | lys |
3 | 207 | G | ||
3 | 208 | G | ||
3 | 209 | G | 70 | gly |
3 | 210 | G | ||
3 | 211 | G | ||
3 | 212 | G | 71 | gly |
3 | 213 | C | ||
3 | 214 | T | ||
3 | 215 | A | 72 | tyr |
3 | 216 | T | ||
3 | 217 | A | ||
3 | 218 | A | 73 | lys |
3 | 219 | A | ||
3 | 220 | T | ||
3 | 221 | T | 74 | phe |
3 | 222 | C | ||
3 | 223 | T | ||
3 | 224 | T | 75 | phe |
3 | 225 | T | ||
3 | 226 | G | ||
3 | 227 | C | 76 | ala |
3 | 228 | T | ||
3 | 229 | G | ||
3 | 230 | A | 77 | asp |
3 | 231 | C | ||
3 | 232 | C | ||
3 | 233 | T | 78 | leu |
3 | 234 | G | ||
3 | 235 | C | ||
3 | 236 | T | 79 | leu |
3 | 237 | G | ||
3 | 238 | G | ||
3 | 239 | A | 80 | asp |
3 | 240 | T | ||
3 | 241 | T | ||
3 | 242 | A | 81 | tyr |
3 | 243 | C | ||
3 | 244 | A | ||
3 | 245 | T | 82 | ile |
3 | 246 | C | ||
3 | 247 | A | ||
3 | 248 | A | 83 | lys |
3 | 249 | A | ||
3 | 250 | G | ||
3 | 251 | C | 84 | ala |
3 | 252 | A | ||
3 | 253 | C | ||
3 | 254 | T | 85 | leu |
3 | 255 | G | ||
3 | 256 | A | ||
3 | 257 | A | 86 | asn |
3 | 258 | T | ||
3 | 259 | A | ||
3 | 260 | G | 87 | arg |
3 | 261 | A | ||
3 | 262 | A | ||
3 | 263 | A | 88 | asn |
3 | 264 | T | ||
3 | 265 | A | ||
3 | 266 | G | 89 | ser |
3 | 267 | T | ||
3 | 268 | G | ||
3 | 269 | A | 90 | asp |
3 | 270 | T | ||
3 | 271 | A | ||
3 | 272 | G | 91 | arg |
3 | 273 | A | ||
3 | 274 | T | ||
3 | 275 | C | 92 | ser |
3 | 276 | C | ||
3 | 277 | A | ||
3 | 278 | T | 93 | ile |
3 | 279 | T | ||
3 | 280 | C | ||
3 | 281 | C | 94 | pro |
3 | 282 | T | ||
3 | 283 | A | ||
3 | 284 | T | 95 | met |
3 | 285 | G | ||
3 | 286 | A | ||
3 | 287 | C | 96 | thr |
3 | 288 | T | ||
3 | 289 | G | ||
3 | 290 | T | 97 | val |
3 | 291 | A | ||
3 | 292 | G | ||
3 | 293 | A | 98 | asp |
3 | 294 | T | ||
3 | 295 | T | ||
3 | 296 | T | 99 | phe |
3 | 297 | T | ||
3 | 298 | A | ||
3 | 299 | T | 100 | ile |
3 | 300 | C | ||
3 | 301 | A | ||
3 | 302 | G | 101 | arg |
3 | 303 | A | ||
3 | 304 | C | ||
3 | 305 | T | 102 | leu |
3 | 306 | G | ||
3 | 307 | A | ||
3 | 308 | A | 103 | lys |
3 | 309 | G | ||
3 | 310 | A | ||
3 | 311 | G | 104 | ser |
3 | 312 | C | ||
3 | 313 | T | ||
3 | 314 | A | 105 | tyr |
3 | 315 | T | ||
3 | 316 | T | ||
3 | 317 | G | 106 | cys |
3 | 318 | T | ||
4 | 319 | A | ||
4 | 320 | A | 107 | asn |
4 | 321 | T | ||
4 | 322 | G | ||
4 | 323 | A | 108 | asp |
4 | 324 | C | ||
4 | 325 | C | ||
4 | 326 | A | 109 | gln |
4 | 327 | G | ||
4 | 328 | T | ||
4 | 329 | C | 110 | ser |
4 | 330 | A | ||
4 | 331 | A | ||
4 | 332 | C | 111 | thr |
4 | 333 | A | ||
4 | 334 | G | ||
4 | 335 | G | 112 | gly |
4 | 336 | G | ||
4 | 337 | G | ||
4 | 338 | A | 113 | asp |
4 | 339 | C | ||
4 | 340 | A | ||
4 | 341 | T | 114 | ile |
4 | 342 | A | ||
4 | 343 | A | ||
4 | 344 | A | 115 | lys |
4 | 345 | A | ||
4 | 346 | G | ||
4 | 347 | T | 116 | val |
4 | 348 | A | ||
4 | 349 | A | ||
4 | 350 | T | 117 | ile |
4 | 351 | T | ||
4 | 352 | G | ||
4 | 353 | G | 118 | gly |
4 | 354 | T | ||
4 | 355 | G | ||
4 | 356 | G | 119 | gly |
4 | 357 | A | ||
4 | 358 | G | ||
4 | 359 | A | 120 | asp |
4 | 360 | T | ||
4 | 361 | G | ||
4 | 362 | A | 121 | asp |
4 | 363 | T | ||
4 | 364 | C | ||
4 | 365 | T | 122 | leu |
4 | 366 | C | ||
4 | 367 | T | ||
4 | 368 | C | 123 | ser |
4 | 369 | A | ||
4 | 370 | A | ||
4 | 371 | C | 124 | thr |
4 | 372 | T | ||
4 | 373 | T | ||
4 | 374 | T | 125 | leu |
4 | 375 | A | ||
4 | 376 | A | ||
4 | 377 | C | 126 | thr |
4 | 378 | T | ||
4 | 379 | G | ||
4 | 380 | G | 127 | gly |
4 | 381 | A | ||
4 | 382 | A | ||
4 | 383 | A | 128 | lys |
4 | 384 | G | ||
5 | 385 | A | ||
5 | 386 | A | 129 | asn |
5 | 387 | T | ||
5 | 388 | G | ||
5 | 389 | T | 130 | val |
5 | 390 | C | ||
5 | 391 | T | ||
5 | 392 | T | 131 | leu |
5 | 393 | G | ||
5 | 394 | A | ||
5 | 395 | T | 132 | ile |
5 | 396 | T | ||
5 | 397 | G | ||
5 | 398 | T | 133 | val |
5 | 399 | G | ||
5 | 400 | G | ||
5 | 401 | A | 134 | glu |
5 | 402 | A | ||
6 | 403 | G | ||
6 | 404 | A | 135 | asp |
6 | 405 | T | ||
6 | 406 | A | ||
6 | 407 | T | 136 | ile |
6 | 408 | A | ||
6 | 409 | A | ||
6 | 410 | T | 137 | ile |
6 | 411 | T | ||
6 | 412 | G | ||
6 | 413 | A | 138 | asp |
6 | 414 | C | ||
6 | 415 | A | ||
6 | 416 | C | 139 | thr |
6 | 417 | T | ||
6 | 418 | G | ||
6 | 419 | G | 140 | gly |
6 | 420 | C | ||
6 | 421 | A | ||
6 | 422 | A | 141 | lys |
6 | 423 | A | ||
6 | 424 | A | ||
6 | 425 | C | 142 | thr |
6 | 426 | A | ||
6 | 427 | A | ||
6 | 428 | T | 143 | met |
6 | 429 | G | ||
6 | 430 | C | ||
6 | 431 | A | 144 | gln |
6 | 432 | G | ||
6 | 433 | A | ||
6 | 434 | C | 145 | thr |
6 | 435 | T | ||
6 | 436 | T | ||
6 | 437 | T | 146 | leu |
6 | 438 | G | ||
6 | 439 | C | ||
6 | 440 | T | 147 | leu |
6 | 441 | T | ||
6 | 442 | T | ||
6 | 443 | C | 148 | ser |
6 | 444 | C | ||
6 | 445 | T | ||
6 | 446 | T | 149 | leu |
6 | 447 | G | ||
6 | 448 | G | ||
6 | 449 | T | 150 | val |
6 | 450 | C | ||
6 | 451 | A | ||
6 | 452 | G | 151 | arg |
6 | 453 | G | ||
6 | 454 | C | ||
6 | 455 | A | 152 | gln |
6 | 456 | G | ||
6 | 457 | T | ||
6 | 458 | A | 153 | tyr |
6 | 459 | T | ||
6 | 460 | A | ||
6 | 461 | A | 154 | asn |
6 | 462 | T | ||
6 | 463 | C | ||
6 | 464 | C | 155 | pro |
6 | 465 | A | ||
6 | 466 | A | ||
6 | 467 | A | 156 | lys |
6 | 468 | G | ||
6 | 469 | A | ||
6 | 470 | T | 157 | met |
6 | 471 | G | ||
6 | 472 | G | ||
6 | 473 | T | 158 | val |
6 | 474 | C | ||
6 | 475 | A | ||
6 | 476 | A | 159 | lys |
6 | 477 | G | ||
6 | 478 | G | ||
6 | 479 | T | 160 | val |
6 | 480 | C | ||
6 | 481 | G | ||
6 | 482 | C | 161 | ala |
6 | 483 | A | ||
6 | 484 | A | ||
6 | 485 | G | 162 | ser |
7 | 486 | C | ||
7 | 487 | T | ||
7 | 488 | T | 163 | leu |
7 | 489 | G | ||
7 | 490 | C | ||
7 | 491 | T | 164 | leu |
7 | 492 | G | ||
7 | 493 | G | ||
7 | 494 | T | 165 | val |
7 | 495 | G | ||
7 | 496 | A | ||
7 | 497 | A | 166 | lys |
7 | 498 | A | ||
7 | 499 | A | ||
7 | 500 | G | 167 | arg |
7 | 501 | G | ||
7 | 502 | A | ||
7 | 503 | C | 168 | thr |
7 | 504 | C | ||
7 | 505 | C | ||
7 | 506 | C | 169 | pro |
7 | 507 | A | ||
7 | 508 | C | ||
7 | 509 | G | 170 | arg |
7 | 510 | A | ||
7 | 511 | A | ||
7 | 512 | G | 171 | ser |
7 | 513 | T | ||
7 | 514 | G | ||
7 | 515 | T | 172 | val |
7 | 516 | T | ||
7 | 517 | G | ||
7 | 518 | G | 173 | gly |
7 | 519 | A | ||
7 | 520 | T | ||
7 | 521 | A | 174 | tyr |
7 | 522 | T | ||
7 | 523 | A | ||
7 | 524 | A | 175 | lys |
7 | 525 | G | ||
7 | 526 | C | ||
7 | 527 | C | 176 | pro |
7 | 528 | A | ||
7 | 529 | G | ||
7 | 530 | A | 177 | asp |
7 | 531 | C | ||
8 | 532 | T | ||
8 | 533 | T | 178 | phe |
8 | 534 | T | ||
8 | 535 | G | ||
8 | 536 | T | 179 | val |
8 | 537 | T | ||
8 | 538 | G | ||
8 | 539 | G | 180 | gly |
8 | 540 | A | ||
8 | 541 | T | ||
8 | 542 | T | 181 | phe |
8 | 543 | T | ||
8 | 544 | G | ||
8 | 545 | A | 182 | glu |
8 | 546 | A | ||
8 | 547 | A | ||
8 | 548 | T | 183 | ile |
8 | 549 | T | ||
8 | 550 | C | ||
8 | 551 | C | 184 | pro |
8 | 552 | A | ||
8 | 553 | G | ||
8 | 554 | A | 185 | asp |
8 | 555 | C | ||
8 | 556 | A | ||
8 | 557 | A | 186 | lys |
8 | 558 | G | ||
8 | 559 | T | ||
8 | 560 | T | 187 | phe |
8 | 561 | T | ||
8 | 562 | G | ||
8 | 563 | T | 188 | val |
8 | 564 | T | ||
8 | 565 | G | ||
8 | 566 | T | 189 | val |
8 | 567 | A | ||
8 | 568 | G | ||
8 | 569 | G | 190 | gly |
8 | 570 | A | ||
8 | 571 | T | ||
8 | 572 | A | 191 | tyr |
8 | 573 | T | ||
8 | 574 | G | ||
8 | 575 | C | 192 | ala |
8 | 576 | C | ||
8 | 577 | C | ||
8 | 578 | T | 193 | leu |
8 | 579 | T | ||
8 | 580 | G | ||
8 | 581 | A | 194 | asp |
8 | 582 | C | ||
8 | 583 | T | ||
8 | 584 | A | 195 | tyr |
8 | 585 | T | ||
8 | 586 | A | ||
8 | 587 | A | 196 | asn |
8 | 588 | T | ||
8 | 589 | G | ||
8 | 590 | A | 197 | glu |
8 | 591 | A | ||
8 | 592 | T | ||
8 | 593 | A | 198 | tyr |
8 | 594 | C | ||
8 | 595 | T | ||
8 | 596 | T | 199 | phe |
8 | 597 | C | ||
8 | 598 | A | ||
8 | 599 | G | 200 | arg |
8 | 600 | G | ||
8 | 601 | G | ||
8 | 602 | A | 201 | asp |
8 | 603 | T | ||
8 | 604 | T | ||
8 | 605 | T | 202 | leu |
8 | 606 | G | ||
8 | 607 | A | ||
8 | 608 | A | 203 | asn |
8 | 609 | T | ||
9 | 610 | C | ||
9 | 611 | A | 204 | his |
9 | 612 | T | ||
9 | 613 | G | ||
9 | 614 | T | 205 | val |
9 | 615 | T | ||
9 | 616 | T | ||
9 | 617 | G | 206 | cys |
9 | 618 | T | ||
9 | 619 | G | ||
9 | 620 | T | 207 | val |
9 | 621 | C | ||
9 | 622 | A | ||
9 | 623 | T | 208 | ile |
9 | 624 | T | ||
9 | 625 | A | ||
9 | 626 | G | 209 | ser |
9 | 627 | T | ||
9 | 628 | G | ||
9 | 629 | A | 210 | glu |
9 | 630 | A | ||
9 | 631 | A | ||
9 | 632 | C | 211 | thr |
9 | 633 | T | ||
9 | 634 | G | ||
9 | 635 | G | 212 | gly |
9 | 636 | A | ||
9 | 637 | A | ||
9 | 638 | A | 213 | lys |
9 | 639 | A | ||
9 | 640 | G | ||
9 | 641 | C | 214 | ala |
9 | 642 | A | ||
9 | 643 | A | ||
9 | 644 | A | 215 | lys |
9 | 645 | A | ||
9 | 646 | T | ||
9 | 647 | A | 216 | tyr |
9 | 648 | C | ||
9 | 649 | A | ||
9 | 650 | A | 217 | lys |
9 | 651 | A | ||
9 | 652 | G | ||
9 | 653 | C | 218 | ala |
9 | 654 | C | ||
9 | 655 | T | ||
9 | 656 | A | 219 | stop |
9 | 657 | A |