Description of the mutations of TSC2 (NM_000548) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC402303 | K7X | 7 | 19 | A>T | Tuberous slerosis |
| RC402304 | K12X | 12 | 34 | A>T | Tuberous slerosis |
| RC402305 | N56S | 56 | 167 | A>G | Tuberous slerosis |
| RC402306 | E66X | 66 | 196 | G>T | Tuberous slerosis |
| RC402307 | Q90X | 90 | 268 | C>T | Tuberous slerosis |
| RC402308 | H137R | 137 | 410 | A>G | Tuberous slerosis |
| RC402309 | Y155X | 155 | 465 | C>G | Tuberous slerosis |
| RC402310 | E157X | 157 | 469 | G>T | Tuberous slerosis |
| RC402311 | Q166X | 166 | 496 | C>T | Tuberous slerosis |
| RC402312 | L183X | 183 | 548 | T>A | Tuberous slerosis |
| RC402313 | E193X | 193 | 577 | G>T | Tuberous slerosis |
| RC402314 | A196T | 196 | 586 | G>A | Tuberous slerosis |
| RC402315 | Q200X | 200 | 598 | C>T | Tuberous slerosis |
| RC402316 | C206X | 206 | 618 | C>A | Tuberous slerosis |
| RC402317 | E216K | 216 | 646 | G>A | Tuberous slerosis |
| RC402318 | Q220X | 220 | 658 | C>T | Tuberous slerosis |
| RC402319 | C227Y | 227 | 680 | G>A | Tuberous slerosis |
| RC402320 | C244Y | 244 | 731 | G>A | Tuberous slerosis |
| RC402321 | C244R | 244 | 730 | T>C | Tuberous slerosis |
| RC402322 | C253X | 253 | 759 | C>A | Tuberous slerosis |
| RC402323 | E254X | 254 | 760 | G>T | Tuberous slerosisd lymphniomyomosis |
| RC402324 | C256X | 256 | 768 | C>A | Tuberous slerosis |
| RC402325 | K258N | 258 | 774 | G>C | Tuberous slerosis |
| RC402326 | R261P | 261 | 782 | G>C | Tuberous slerosis |
| RC402327 | L264P | 264 | 791 | T>C | Tuberous slerosis |
| RC402328 | N275K | 275 | 825 | C>A | Tuberous slerosis |
| RC402329 | L292P | 292 | 875 | T>C | Tuberous slerosis |
| RC402330 | G294E | 294 | 881 | G>A | Tuberous slerosis |
| RC402331 | G294R | 294 | 880 | G>A | Tuberous slerosisd lymphniomyomosis |
| RC402332 | W304X | 304 | 912 | G>A | Tuberous slerosis |
| RC402333 | W304X | 304 | 911 | G>A | Tuberous slerosis |
| RC402334 | Y324X | 324 | 972 | C>A | Tuberous slerosis |
| RC402335 | Y324X | 324 | 972 | C>G | Tuberous slerosis |
| RC402336 | N331K | 331 | 993 | C>A | Tuberous slerosis |
| RC402337 | V334G | 334 | 1001 | T>G | Tuberous slerosis |
| RC402338 | L345R | 345 | 1034 | T>G | Tuberous slerosis |
| RC402339 | K348X | 348 | 1042 | A>T | Tuberous slerosis |
| RC402340 | Q354X | 354 | 1060 | C>T | Tuberous slerosis |
| RC402341 | L361P | 361 | 1082 | T>C | Tuberous slerosis |
| RC402342 | E366X | 366 | 1096 | G>T | Tuberous slerosis |
| RC402343 | Q370X | 370 | 1108 | C>T | Tuberous slerosis |
| RC402344 | Q373X | 373 | 1117 | C>T | Tuberous slerosis |
| RC402345 | Q404X | 404 | 1210 | C>T | Tuberous slerosis |
| RC402346 | Y407D | 407 | 1219 | T>G | Tuberous slerosis |
| RC402347 | Q446X | 446 | 1336 | C>T | Tuberous slerosis |
| RC402348 | M449I | 449 | 1347 | G>C | Tuberous slerosis |
| RC402349 | E450X | 450 | 1348 | G>T | Tuberous slerosis |
| RC402350 | R458X | 458 | 1372 | C>T | Tuberous slerosis |
| RC402351 | R462H | 462 | 1385 | G>A | Tuberous slerosis |
| RC402352 | L466R | 466 | 1397 | T>G | Tuberous slerosis |
| RC402353 | Q478X | 478 | 1432 | C>T | Tuberous slerosis |
| RC402354 | N486I | 486 | 1457 | A>T | Tuberous slerosis |
| RC402355 | S491X | 491 | 1472 | C>A | Tuberous slerosis |
| RC402356 | E498X | 498 | 1492 | G>T | Tuberous slerosis |
| RC402357 | Q503X | 503 | 1507 | C>T | Tuberous slerosis |
| RC402358 | R505X | 505 | 1513 | C>T | Tuberous slerosis |
| RC402359 | N525S | 525 | 1574 | A>G | Tuberous slerosis |
| RC402360 | S554X | 554 | 1661 | C>A | Tuberous slerosis |
| RC402361 | Q595X | 595 | 1783 | C>T | Tuberous slerosis |
| RC402362 | Y598X | 598 | 1794 | C>G | Tuberous slerosis |
| RC402363 | Y598C | 598 | 1793 | A>G | Tuberous slerosis |
| RC402364 | Y598H | 598 | 1792 | T>C | Tuberous slerosis |
| RC402365 | K599M | 599 | 1796 | A>T | Tuberous slerosis |
| RC402366 | A607E | 607 | 1820 | C>A | Tuberous slerosis |
| RC402367 | R611Q | 611 | 1832 | G>A | Tuberous slerosis |
| RC402368 | R611G | 611 | 1831 | C>G | Tuberous slerosis |
| RC402369 | R611W | 611 | 1831 | C>T | Tuberous slerosis |
| RC402370 | A614D | 614 | 1841 | C>A | Tuberous slerosis |
| RC402371 | R622P | 622 | 1865 | G>C | Tuberous slerosis |
| RC402372 | D647N | 647 | 1939 | G>A | Tuberous slerosis |
| RC402373 | M649T | 649 | 1946 | T>C | Tuberous slerosis |
| RC402374 | K657X | 657 | 1969 | A>T | Tuberous slerosis |
| RC402375 | L693P | 693 | 2078 | T>C | Tuberous slerosis |
| RC402376 | C696Y | 696 | 2087 | G>A | Tuberous slerosis |
| RC402377 | C696R | 696 | 2086 | T>C | Tuberous slerosis |
| RC402378 | Q699X | 699 | 2095 | C>T | Tuberous slerosis |
| RC402379 | E700K | 700 | 2098 | G>A | Tuberous slerosis |
| RC402380 | W703X | 703 | 2109 | G>A | Tuberous slerosis |
| RC402381 | W703X | 703 | 2108 | G>A | Tuberous slerosis |
| RC402382 | L717R | 717 | 2150 | T>G | Tuberous slerosis |
| RC402383 | Q732X | 732 | 2194 | C>T | Tuberous slerosis |
| RC402384 | L733P | 733 | 2198 | T>C | Tuberous slerosis |
| RC402385 | L737P | 737 | 2210 | T>C | Tuberous slerosis |
| RC402386 | S742X | 742 | 2225 | C>G | Tuberous slerosis |
| RC402387 | R751X | 751 | 2251 | C>T | Tuberous slerosis |
| RC402388 | V769E | 769 | 2306 | T>A | Tuberous slerosis |
| RC402389 | Y776X | 776 | 2328 | C>A | Tuberous slerosis |
| RC402390 | Q785X | 785 | 2353 | C>T | Tuberous slerosis |
| RC402391 | E787X | 787 | 2359 | G>T | Tuberous slerosis |
| RC402392 | M788R | 788 | 2363 | T>G | Tuberous slerosis |
| RC402393 | Y790X | 790 | 2370 | C>G | Tuberous slerosis |
| RC402394 | Q794X | 794 | 2380 | C>T | Tuberous slerosis |
| RC402395 | L808S | 808 | 2423 | T>C | Tuberous slerosis |
| RC402396 | E814K | 814 | 2440 | G>A | Tuberous slerosis |
| RC402397 | P816L | 816 | 2447 | C>T | Tuberous slerosis |
| RC402398 | K821X | 821 | 2461 | A>T | Tuberous slerosis |
| RC402399 | L826M | 826 | 2476 | C>A | Tuberous slerosis |
| RC402400 | L847P | 847 | 2540 | T>C | Tuberous slerosis |
| RC402401 | Q864X | 864 | 2590 | C>T | Tuberous slerosis |
| RC402402 | C887X | 887 | 2661 | T>A | Tuberous slerosis |
| RC402403 | M895V | 895 | 2683 | A>G | Tuberous slerosis |
| RC402404 | W896X | 896 | 2688 | G>A | Tuberous slerosis |
| RC402405 | W896X | 896 | 2687 | G>A | Tuberous slerosis |
| RC402406 | F897S | 897 | 2690 | T>C | Tuberous slerosis |
| RC402407 | R905Q | 905 | 2714 | G>A | Tuberous slerosis |
| RC402408 | R905G | 905 | 2713 | C>G | Tuberous slerosis |
| RC402409 | R905W | 905 | 2713 | C>T | Tuberous slerosis |
| RC402410 | L916R | 916 | 2747 | T>G | Tuberous slerosis |
| RC402411 | E929X | 929 | 2785 | G>T | Tuberous slerosis |
| RC402412 | E942X | 942 | 2824 | G>T | Tuberous slerosis |
| RC402413 | R951S | 951 | 2853 | A>T | Tuberous slerosis |
| RC402414 | V963M | 963 | 2887 | G>A | Tuberous slerosis |
| RC402415 | Q992X | 992 | 2974 | C>T | Tuberous slerosis |
| RC402416 | Q1010X | 1010 | 3028 | C>T | Tuberous slerosis |
| RC402417 | L1027P | 1027 | 3080 | T>C | Tuberous slerosis |
| RC402418 | D1028N | 1028 | 3082 | G>A | Tuberous slerosis |
| RC402419 | R1032X | 1032 | 3094 | C>T | Tuberous slerosis |
| RC402420 | Y1033X | 1033 | 3099 | C>A | Tuberous slerosis |
| RC402421 | S1036P | 1036 | 3106 | T>C | Tuberous slerosis |
| RC402422 | V1047A | 1047 | 3140 | T>C | Tuberous slerosis |
| RC402423 | W1060R | 1060 | 3178 | T>C | Tuberous slerosis |
| RC402424 | T1068I | 1068 | 3203 | C>T | Tuberous slerosis |
| RC402425 | T1071R | 1071 | 3212 | C>G | Tuberous slerosis |
| RC402426 | S1079X | 1079 | 3236 | C>A | Tuberous slerosis |
| RC402427 | D1084E | 1084 | 3252 | C>G | Tuberous slerosis |
| RC402428 | Q1089X | 1089 | 3265 | C>T | Tuberous slerosis |
| RC402429 | Q1119X | 1119 | 3355 | C>T | Tuberous slerosis |
| RC402430 | R1138X | 1138 | 3412 | C>T | Tuberous slerosis |
| RC402431 | A1141V | 1141 | 3422 | C>T | Tuberous slerosis |
| RC402432 | A1141T | 1141 | 3421 | G>A | Tuberous slerosis |
| RC402433 | V1144M | 1144 | 3430 | G>A | Tuberous slerosis |
| RC402434 | Q1148X | 1148 | 3442 | C>T | Tuberous slerosis |
| RC402435 | R1159L | 1159 | 3476 | G>T | Tuberous slerosis |
| RC402436 | A1164V | 1164 | 3491 | C>T | Tuberous slerosis |
| RC402437 | Q1178X | 1178 | 3532 | C>T | Tuberous slerosis |
| RC402438 | E1179X | 1179 | 3535 | G>T | Tuberous slerosis |
| RC402439 | Q1192X | 1192 | 3574 | C>T | Tuberous slerosis |
| RC402440 | V1199G | 1199 | 3596 | T>G | Tuberous slerosis |
| RC402441 | R1200W | 1200 | 3598 | C>T | Tuberous slerosis |
| RC402442 | P1202R | 1202 | 3605 | C>G | Tuberous slerosis |
| RC402443 | P1202H | 1202 | 3605 | C>A | Tuberous slerosis |
| RC402444 | S1221X | 1221 | 3662 | C>A | Tuberous slerosis |
| RC402445 | Q1229X | 1229 | 3685 | C>T | Tuberous slerosis |
| RC402446 | Y1250X | 1250 | 3750 | C>G | Tuberous slerosis |
| RC402447 | S1252X | 1252 | 3755 | C>G | Tuberous slerosisd lymphniomyomosis |
| RC402448 | D1295V | 1295 | 3884 | A>T | Tuberous slerosis |
| RC402449 | P1305S | 1305 | 3913 | C>T | Tuberous slerosis |
| RC402450 | E1313X | 1313 | 3937 | G>T | Tuberous slerosis |
| RC402451 | R1329H | 1329 | 3986 | G>A | Tuberous slerosis |
| RC402452 | S1346X | 1346 | 4037 | C>A | Tuberous slerosis |
| RC402453 | E1366X | 1366 | 4096 | G>T | Tuberous slerosis |
| RC402454 | Q1377X | 1377 | 4129 | C>T | Tuberous slerosis |
| RC402455 | E1390X | 1390 | 4168 | G>T | Tuberous slerosis |
| RC402456 | Q1392X | 1392 | 4174 | C>T | Tuberous slerosis |
| RC402457 | Q1419X | 1419 | 4255 | C>T | Tuberous slerosis |
| RC402458 | E1426X | 1426 | 4276 | G>T | Tuberous slerosis |
| RC402459 | W1430X | 1430 | 4290 | G>A | Tuberous slerosis |
| RC402460 | W1430X | 1430 | 4289 | G>A | Tuberous slerosis |
| RC402461 | S1433X | 1433 | 4298 | C>A | Tuberous slerosis |
| RC402462 | R1438Q | 1438 | 4313 | G>A | Tuberous slerosis |
| RC402463 | R1459X | 1459 | 4375 | C>T | Tuberous slerosis |
| RC402464 | S1466X | 1466 | 4397 | C>A | Tuberous slerosis |
| RC402465 | S1469X | 1469 | 4406 | C>A | Tuberous slerosis |
| RC402466 | L1480X | 1480 | 4439 | T>A | Tuberous slerosis |
| RC402467 | P1497R | 1497 | 4490 | C>G | Tuberous slerosis |
| RC402468 | P1497T | 1497 | 4489 | C>A | Tuberous slerosis |
| RC402469 | P1497S | 1497 | 4489 | C>T | Tuberous slerosis |
| RC402470 | S1498N | 1498 | 4493 | G>A | Tuberous slerosis |
| RC402471 | Q1503P | 1503 | 4508 | A>C | Tuberous slerosis |
| RC402472 | Q1503X | 1503 | 4507 | C>T | Tuberous slerosis |
| RC402473 | L1504H | 1504 | 4511 | T>A | Tuberous slerosis |
| RC402474 | Y1505X | 1505 | 4515 | C>A | Tuberous slerosis |
| RC402475 | Q1525X | 1525 | 4573 | C>T | Tuberous slerosis |
| RC402476 | L1534H | 1534 | 4601 | T>A | Tuberous slerosis |
| RC402477 | D1535A | 1535 | 4604 | A>C | Tuberous slerosis |
| RC402478 | D1535Y | 1535 | 4603 | G>T | Tuberous slerosis |
| RC402479 | Q1536X | 1536 | 4606 | C>T | Tuberous slerosis |
| RC402480 | Y1540X | 1540 | 4620 | C>A | Tuberous slerosis |
| RC402481 | Y1540X | 1540 | 4620 | C>G | Tuberous slerosis |
| RC402482 | Y1549C | 1549 | 4646 | A>G | Tuberous slerosis |
| RC402483 | Y1549N | 1549 | 4645 | T>A | Tuberous slerosis |
| RC402484 | E1552X | 1552 | 4654 | G>T | Tuberous slerosis |
| RC402485 | Q1554H | 1554 | 4662 | G>T | Tuberous slerosis |
| RC402486 | E1558K | 1558 | 4672 | G>A | Tuberous slerosis |
| RC402487 | L1562P | 1562 | 4685 | T>C | Tuberous slerosis |
| RC402488 | G1567V | 1567 | 4700 | G>T | Tuberous slerosis |
| RC402489 | G1567D | 1567 | 4700 | G>A | Tuberous slerosis |
| RC402490 | R1570W | 1570 | 4708 | A>T | Tuberous slerosis |
| RC402491 | Y1571X | 1571 | 4713 | C>G | Tuberous slerosis |
| RC402492 | Y1571C | 1571 | 4712 | A>G | Tuberous slerosis |
| RC402493 | G1579S | 1579 | 4735 | G>A | Tuberous slerosis |
| RC402494 | Y1593X | 1593 | 4779 | C>G | Tuberous slerosis |
| RC402495 | L1594M | 1594 | 4780 | C>A | Tuberous slerosis |
| RC402496 | G1595R | 1595 | 4783 | G>A | Tuberous slerosis |
| RC402497 | L1597P | 1597 | 4790 | T>C | Tuberous slerosis |
| RC402498 | W1610X | 1610 | 4830 | G>A | Tuberous slerosis |
| RC402499 | W1610X | 1610 | 4829 | G>A | Tuberous slerosis |
| RC402500 | Q1616X | 1616 | 4846 | C>T | Tuberous slerosis |
| RC402501 | H1620Y | 1620 | 4858 | C>T | Tuberous slerosis |
| RC402502 | C1635X | 1635 | 4905 | C>A | Tuberous slerosis |
| RC402503 | H1640Y | 1640 | 4918 | C>T | Tuberous slerosis |
| RC402504 | N1643K | 1643 | 4929 | C>G | Tuberous slerosis |
| RC402505 | N1643I | 1643 | 4928 | A>T | Tuberous slerosis |
| RC402506 | N1643H | 1643 | 4927 | A>C | Tuberous slerosis |
| RC402507 | V1646G | 1646 | 4937 | T>G | Tuberous slerosis |
| RC402508 | I1648T | 1648 | 4943 | T>C | Tuberous slerosis |
| RC402509 | Y1650C | 1650 | 4949 | A>G | Tuberous slerosis |
| RC402510 | N1651S | 1651 | 4952 | A>G | Tuberous slerosis |
| RC402511 | S1653F | 1653 | 4958 | C>T | Tuberous slerosis |
| RC402512 | Q1665X | 1665 | 4993 | C>T | Tuberous slerosis |
| RC402513 | P1675L | 1675 | 5024 | C>T | Tuberous slerosis |
| RC402514 | Y1678X | 1678 | 5034 | C>G | Tuberous slerosis |
| RC402515 | Y1678X | 1678 | 5034 | C>A | Tuberous slerosis |
| RC402516 | N1681K | 1681 | 5043 | C>G | Tuberous slerosis |
| RC402517 | Q1686X | 1686 | 5056 | C>T | Tuberous slerosis |
| RC402518 | D1690Y | 1690 | 5068 | G>T | Tuberous slerosis |
| RC402519 | V1703G | 1703 | 5108 | T>G | Tuberous slerosis |
| RC402520 | S1704T | 1704 | 5110 | T>A | Tuberous slerosis |
| RC402521 | L1708P | 1708 | 5123 | T>C | Tuberous slerosis |
| RC402522 | P1709R | 1709 | 5126 | C>G | Tuberous slerosis |
| RC402523 | P1709L | 1709 | 5126 | C>T | Tuberous slerosis |
| RC402524 | A1712D | 1712 | 5135 | C>A | Tuberous slerosis |
| RC402525 | R1713H | 1713 | 5138 | G>A | Tuberous slerosis |
| RC402526 | Q1714X | 1714 | 5140 | C>T | Tuberous slerosis |
| RC402527 | L1717P | 1717 | 5150 | T>C | Tuberous slerosis |
| RC402528 | S1723P | 1723 | 5167 | T>C | Tuberous slerosis |
| RC402529 | Q1724X | 1724 | 5170 | C>T | Tuberous slerosis |
| RC402530 | Y1736X | 1736 | 5208 | C>A | Tuberous slerosis |
| RC402531 | W1740X | 1740 | 5220 | G>A | Tuberous slerosis |
| RC402532 | R1743Q | 1743 | 5228 | G>A | Tuberous slerosis |
| RC402533 | R1743P | 1743 | 5228 | G>C | Tuberous slerosis |
| RC402534 | R1743W | 1743 | 5227 | C>T | Tuberous slerosis |
| RC402535 | R1743G | 1743 | 5227 | C>G | Tuberous slerosis |
| RC402536 | L1744P | 1744 | 5231 | T>C | Tuberous slerosis |
| RC402537 | L1750F | 1750 | 5248 | C>T | Tuberous slerosis |
| RC402538 | H1773P | 1773 | 5318 | A>C | Tuberous slerosis |
| RC402539 | E1789Q | 1789 | 5365 | G>C | Tuberous slerosis |
| RC402540 | R1793Q | 1793 | 5378 | G>A | Tuberous slerosis |
| RC402541 | R1795C | 1795 | 5383 | C>T | Tuberous slerosisd lymphniomyomosis |
| RC402542 | L1796I | 1796 | 5386 | C>A | Tuberous slerosis |
