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HomeAll Cancer Mutant ClonesTSC2 Mutants

Description of the mutations of TSC2 (NM_000548) Mutants

Keys for Mutation Description

A.A. substitution
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

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC402303 K7X719A>TTuberous slerosis
RC402304 K12X1234A>TTuberous slerosis
RC402305 N56S56167A>GTuberous slerosis
RC402306 E66X66196G>TTuberous slerosis
RC402307 Q90X90268C>TTuberous slerosis
RC402308 H137R137410A>GTuberous slerosis
RC402309 Y155X155465C>GTuberous slerosis
RC402310 E157X157469G>TTuberous slerosis
RC402311 Q166X166496C>TTuberous slerosis
RC402312 L183X183548T>ATuberous slerosis
RC402313 E193X193577G>TTuberous slerosis
RC402314 A196T196586G>ATuberous slerosis
RC402315 Q200X200598C>TTuberous slerosis
RC402316 C206X206618C>ATuberous slerosis
RC402317 E216K216646G>ATuberous slerosis
RC402318 Q220X220658C>TTuberous slerosis
RC402319 C227Y227680G>ATuberous slerosis
RC402320 C244Y244731G>ATuberous slerosis
RC402321 C244R244730T>CTuberous slerosis
RC402322 C253X253759C>ATuberous slerosis
RC402323 E254X254760G>TTuberous slerosisd lymphniomyomosis
RC402324 C256X256768C>ATuberous slerosis
RC402325 K258N258774G>CTuberous slerosis
RC402326 R261P261782G>CTuberous slerosis
RC402327 L264P264791T>CTuberous slerosis
RC402328 N275K275825C>ATuberous slerosis
RC402329 L292P292875T>CTuberous slerosis
RC402330 G294E294881G>ATuberous slerosis
RC402331 G294R294880G>ATuberous slerosisd lymphniomyomosis
RC402332 W304X304912G>ATuberous slerosis
RC402333 W304X304911G>ATuberous slerosis
RC402334 Y324X324972C>ATuberous slerosis
RC402335 Y324X324972C>GTuberous slerosis
RC402336 N331K331993C>ATuberous slerosis
RC402337 V334G3341001T>GTuberous slerosis
RC402338 L345R3451034T>GTuberous slerosis
RC402339 K348X3481042A>TTuberous slerosis
RC402340 Q354X3541060C>TTuberous slerosis
RC402341 L361P3611082T>CTuberous slerosis
RC402342 E366X3661096G>TTuberous slerosis
RC402343 Q370X3701108C>TTuberous slerosis
RC402344 Q373X3731117C>TTuberous slerosis
RC402345 Q404X4041210C>TTuberous slerosis
RC402346 Y407D4071219T>GTuberous slerosis
RC402347 Q446X4461336C>TTuberous slerosis
RC402348 M449I4491347G>CTuberous slerosis
RC402349 E450X4501348G>TTuberous slerosis
RC402350 R458X4581372C>TTuberous slerosis
RC402351 R462H4621385G>ATuberous slerosis
RC402352 L466R4661397T>GTuberous slerosis
RC402353 Q478X4781432C>TTuberous slerosis
RC402354 N486I4861457A>TTuberous slerosis
RC402355 S491X4911472C>ATuberous slerosis
RC402356 E498X4981492G>TTuberous slerosis
RC402357 Q503X5031507C>TTuberous slerosis
RC402358 R505X5051513C>TTuberous slerosis
RC402359 N525S5251574A>GTuberous slerosis
RC402360 S554X5541661C>ATuberous slerosis
RC402361 Q595X5951783C>TTuberous slerosis
RC402362 Y598X5981794C>GTuberous slerosis
RC402363 Y598C5981793A>GTuberous slerosis
RC402364 Y598H5981792T>CTuberous slerosis
RC402365 K599M5991796A>TTuberous slerosis
RC402366 A607E6071820C>ATuberous slerosis
RC402367 R611Q6111832G>ATuberous slerosis
RC402368 R611G6111831C>GTuberous slerosis
RC402369 R611W6111831C>TTuberous slerosis
RC402370 A614D6141841C>ATuberous slerosis
RC402371 R622P6221865G>CTuberous slerosis
RC402372 D647N6471939G>ATuberous slerosis
RC402373 M649T6491946T>CTuberous slerosis
RC402374 K657X6571969A>TTuberous slerosis
RC402375 L693P6932078T>CTuberous slerosis
RC402376 C696Y6962087G>ATuberous slerosis
RC402377 C696R6962086T>CTuberous slerosis
RC402378 Q699X6992095C>TTuberous slerosis
RC402379 E700K7002098G>ATuberous slerosis
RC402380 W703X7032109G>ATuberous slerosis
RC402381 W703X7032108G>ATuberous slerosis
RC402382 L717R7172150T>GTuberous slerosis
RC402383 Q732X7322194C>TTuberous slerosis
RC402384 L733P7332198T>CTuberous slerosis
RC402385 L737P7372210T>CTuberous slerosis
RC402386 S742X7422225C>GTuberous slerosis
RC402387 R751X7512251C>TTuberous slerosis
RC402388 V769E7692306T>ATuberous slerosis
RC402389 Y776X7762328C>ATuberous slerosis
RC402390 Q785X7852353C>TTuberous slerosis
RC402391 E787X7872359G>TTuberous slerosis
RC402392 M788R7882363T>GTuberous slerosis
RC402393 Y790X7902370C>GTuberous slerosis
RC402394 Q794X7942380C>TTuberous slerosis
RC402395 L808S8082423T>CTuberous slerosis
RC402396 E814K8142440G>ATuberous slerosis
RC402397 P816L8162447C>TTuberous slerosis
RC402398 K821X8212461A>TTuberous slerosis
RC402399 L826M8262476C>ATuberous slerosis
RC402400 L847P8472540T>CTuberous slerosis
RC402401 Q864X8642590C>TTuberous slerosis
RC402402 C887X8872661T>ATuberous slerosis
RC402403 M895V8952683A>GTuberous slerosis
RC402404 W896X8962688G>ATuberous slerosis
RC402405 W896X8962687G>ATuberous slerosis
RC402406 F897S8972690T>CTuberous slerosis
RC402407 R905Q9052714G>ATuberous slerosis
RC402408 R905G9052713C>GTuberous slerosis
RC402409 R905W9052713C>TTuberous slerosis
RC402410 L916R9162747T>GTuberous slerosis
RC402411 E929X9292785G>TTuberous slerosis
RC402412 E942X9422824G>TTuberous slerosis
RC402413 R951S9512853A>TTuberous slerosis
RC402414 V963M9632887G>ATuberous slerosis
RC402415 Q992X9922974C>TTuberous slerosis
RC402416 Q1010X10103028C>TTuberous slerosis
RC402417 L1027P10273080T>CTuberous slerosis
RC402418 D1028N10283082G>ATuberous slerosis
RC402419 R1032X10323094C>TTuberous slerosis
RC402420 Y1033X10333099C>ATuberous slerosis
RC402421 S1036P10363106T>CTuberous slerosis
RC402422 V1047A10473140T>CTuberous slerosis
RC402423 W1060R10603178T>CTuberous slerosis
RC402424 T1068I10683203C>TTuberous slerosis
RC402425 T1071R10713212C>GTuberous slerosis
RC402426 S1079X10793236C>ATuberous slerosis
RC402427 D1084E10843252C>GTuberous slerosis
RC402428 Q1089X10893265C>TTuberous slerosis
RC402429 Q1119X11193355C>TTuberous slerosis
RC402430 R1138X11383412C>TTuberous slerosis
RC402431 A1141V11413422C>TTuberous slerosis
RC402432 A1141T11413421G>ATuberous slerosis
RC402433 V1144M11443430G>ATuberous slerosis
RC402434 Q1148X11483442C>TTuberous slerosis
RC402435 R1159L11593476G>TTuberous slerosis
RC402436 A1164V11643491C>TTuberous slerosis
RC402437 Q1178X11783532C>TTuberous slerosis
RC402438 E1179X11793535G>TTuberous slerosis
RC402439 Q1192X11923574C>TTuberous slerosis
RC402440 V1199G11993596T>GTuberous slerosis
RC402441 R1200W12003598C>TTuberous slerosis
RC402442 P1202R12023605C>GTuberous slerosis
RC402443 P1202H12023605C>ATuberous slerosis
RC402444 S1221X12213662C>ATuberous slerosis
RC402445 Q1229X12293685C>TTuberous slerosis
RC402446 Y1250X12503750C>GTuberous slerosis
RC402447 S1252X12523755C>GTuberous slerosisd lymphniomyomosis
RC402448 D1295V12953884A>TTuberous slerosis
RC402449 P1305S13053913C>TTuberous slerosis
RC402450 E1313X13133937G>TTuberous slerosis
RC402451 R1329H13293986G>ATuberous slerosis
RC402452 S1346X13464037C>ATuberous slerosis
RC402453 E1366X13664096G>TTuberous slerosis
RC402454 Q1377X13774129C>TTuberous slerosis
RC402455 E1390X13904168G>TTuberous slerosis
RC402456 Q1392X13924174C>TTuberous slerosis
RC402457 Q1419X14194255C>TTuberous slerosis
RC402458 E1426X14264276G>TTuberous slerosis
RC402459 W1430X14304290G>ATuberous slerosis
RC402460 W1430X14304289G>ATuberous slerosis
RC402461 S1433X14334298C>ATuberous slerosis
RC402462 R1438Q14384313G>ATuberous slerosis
RC402463 R1459X14594375C>TTuberous slerosis
RC402464 S1466X14664397C>ATuberous slerosis
RC402465 S1469X14694406C>ATuberous slerosis
RC402466 L1480X14804439T>ATuberous slerosis
RC402467 P1497R14974490C>GTuberous slerosis
RC402468 P1497T14974489C>ATuberous slerosis
RC402469 P1497S14974489C>TTuberous slerosis
RC402470 S1498N14984493G>ATuberous slerosis
RC402471 Q1503P15034508A>CTuberous slerosis
RC402472 Q1503X15034507C>TTuberous slerosis
RC402473 L1504H15044511T>ATuberous slerosis
RC402474 Y1505X15054515C>ATuberous slerosis
RC402475 Q1525X15254573C>TTuberous slerosis
RC402476 L1534H15344601T>ATuberous slerosis
RC402477 D1535A15354604A>CTuberous slerosis
RC402478 D1535Y15354603G>TTuberous slerosis
RC402479 Q1536X15364606C>TTuberous slerosis
RC402480 Y1540X15404620C>ATuberous slerosis
RC402481 Y1540X15404620C>GTuberous slerosis
RC402482 Y1549C15494646A>GTuberous slerosis
RC402483 Y1549N15494645T>ATuberous slerosis
RC402484 E1552X15524654G>TTuberous slerosis
RC402485 Q1554H15544662G>TTuberous slerosis
RC402486 E1558K15584672G>ATuberous slerosis
RC402487 L1562P15624685T>CTuberous slerosis
RC402488 G1567V15674700G>TTuberous slerosis
RC402489 G1567D15674700G>ATuberous slerosis
RC402490 R1570W15704708A>TTuberous slerosis
RC402491 Y1571X15714713C>GTuberous slerosis
RC402492 Y1571C15714712A>GTuberous slerosis
RC402493 G1579S15794735G>ATuberous slerosis
RC402494 Y1593X15934779C>GTuberous slerosis
RC402495 L1594M15944780C>ATuberous slerosis
RC402496 G1595R15954783G>ATuberous slerosis
RC402497 L1597P15974790T>CTuberous slerosis
RC402498 W1610X16104830G>ATuberous slerosis
RC402499 W1610X16104829G>ATuberous slerosis
RC402500 Q1616X16164846C>TTuberous slerosis
RC402501 H1620Y16204858C>TTuberous slerosis
RC402502 C1635X16354905C>ATuberous slerosis
RC402503 H1640Y16404918C>TTuberous slerosis
RC402504 N1643K16434929C>GTuberous slerosis
RC402505 N1643I16434928A>TTuberous slerosis
RC402506 N1643H16434927A>CTuberous slerosis
RC402507 V1646G16464937T>GTuberous slerosis
RC402508 I1648T16484943T>CTuberous slerosis
RC402509 Y1650C16504949A>GTuberous slerosis
RC402510 N1651S16514952A>GTuberous slerosis
RC402511 S1653F16534958C>TTuberous slerosis
RC402512 Q1665X16654993C>TTuberous slerosis
RC402513 P1675L16755024C>TTuberous slerosis
RC402514 Y1678X16785034C>GTuberous slerosis
RC402515 Y1678X16785034C>ATuberous slerosis
RC402516 N1681K16815043C>GTuberous slerosis
RC402517 Q1686X16865056C>TTuberous slerosis
RC402518 D1690Y16905068G>TTuberous slerosis
RC402519 V1703G17035108T>GTuberous slerosis
RC402520 S1704T17045110T>ATuberous slerosis
RC402521 L1708P17085123T>CTuberous slerosis
RC402522 P1709R17095126C>GTuberous slerosis
RC402523 P1709L17095126C>TTuberous slerosis
RC402524 A1712D17125135C>ATuberous slerosis
RC402525 R1713H17135138G>ATuberous slerosis
RC402526 Q1714X17145140C>TTuberous slerosis
RC402527 L1717P17175150T>CTuberous slerosis
RC402528 S1723P17235167T>CTuberous slerosis
RC402529 Q1724X17245170C>TTuberous slerosis
RC402530 Y1736X17365208C>ATuberous slerosis
RC402531 W1740X17405220G>ATuberous slerosis
RC402532 R1743Q17435228G>ATuberous slerosis
RC402533 R1743P17435228G>CTuberous slerosis
RC402534 R1743W17435227C>TTuberous slerosis
RC402535 R1743G17435227C>GTuberous slerosis
RC402536 L1744P17445231T>CTuberous slerosis
RC402537 L1750F17505248C>TTuberous slerosis
RC402538 H1773P17735318A>CTuberous slerosis
RC402539 E1789Q17895365G>CTuberous slerosis
RC402540 R1793Q17935378G>ATuberous slerosis
RC402541 R1795C17955383C>TTuberous slerosisd lymphniomyomosis
RC402542 L1796I17965386C>ATuberous slerosis

 

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