Description of the mutations of MEN1 (NM_130799) 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 |
| RC403510 | P12L | 12 | 35 | C>T | Multiple endocrine neoplasia 1 |
| RC403511 | L22R | 22 | 65 | T>G | Multiple endocrine neoplasia 1 |
| RC403512 | E26X | 26 | 76 | G>T | Multiple endocrine neoplasia 1 |
| RC403513 | E26K | 26 | 76 | G>A | Multiple endocrine neoplasia 1 |
| RC403514 | G28A | 28 | 83 | G>C | Multiple endocrine neoplasia 1 |
| RC403515 | R29X | 29 | 85 | C>T | Multiple endocrine neoplasia 1 |
| RC403516 | E30X | 30 | 88 | G>T | Multiple endocrine neoplasia 1 |
| RC403517 | S38P | 38 | 112 | T>C | Multiple endocrine neoplasia 1 |
| RC403518 | L39W | 39 | 116 | T>G | Multiple endocrine neoplasia 1 |
| RC403519 | G42D | 42 | 125 | G>A | Multiple endocrine neoplasia 1 |
| RC403520 | E45A | 45 | 134 | A>C | Multiple endocrine neoplasia 1 |
| RC403521 | E45G | 45 | 134 | A>G | Multiple endocrine neoplasia 1 |
| RC403522 | E45K | 45 | 133 | G>A | Multiple endocrine neoplasia 1 |
| RC403523 | E45Q | 45 | 133 | G>C | Multiple endocrine neoplasia 1 |
| RC403524 | Q64X | 64 | 190 | C>T | Multiple endocrine neoplasia 1 |
| RC403525 | Y77X | 77 | 231 | C>G | Multiple endocrine neoplasia 1 |
| RC403526 | Y77X | 77 | 231 | C>A | Multiple endocrine neoplasia 1 |
| RC403527 | A91v | 91 | 272 | C>T | Multiple endocrine neoplasia 1 |
| RC403528 | Q96X | 96 | 286 | C>T | Multiple endocrine neoplasia 1 |
| RC403529 | R98L | 98 | 293 | G>T | Multiple endocrine neoplasia 1 |
| RC403530 | R98X | 98 | 292 | C>T | Multiple endocrine neoplasia 1 |
| RC403531 | R108X | 108 | 322 | C>T | Multiple endocrine neoplasia 1 |
| RC403532 | G110E | 110 | 329 | G>A | Multiple endocrine neoplasia 1 |
| RC403533 | E116G | 116 | 347 | A>G | Multiple endocrine neoplasia 1 |
| RC403534 | E116X | 116 | 346 | G>T | Multiple endocrine neoplasia 1 |
| RC403535 | K119X | 119 | 355 | A>T | Multiple endocrine neoplasia 1 |
| RC403536 | K120X | 120 | 358 | A>T | Multiple endocrine neoplasia 1 |
| RC403537 | W126X | 126 | 378 | G>A | Multiple endocrine neoplasia 1 |
| RC403538 | W126X | 126 | 377 | G>A | Multiple endocrine neoplasia 1 |
| RC403539 | Y133X | 133 | 399 | C>G | Multiple endocrine neoplasia 1 |
| RC403540 | H139P | 139 | 416 | A>C | Multiple endocrine neoplasia 1 |
| RC403541 | H139R | 139 | 416 | A>G | Multiple endocrine neoplasia 1 |
| RC403542 | H139D | 139 | 415 | C>G | Multiple endocrine neoplasia 1 |
| RC403543 | H139Y | 139 | 415 | C>T | Multiple endocrine neoplasia 1 |
| RC403544 | Q141X | 141 | 421 | C>T | Multiple endocrine neoplasia 1 |
| RC403545 | F144C | 144 | 431 | T>G | Multiple endocrine neoplasia 1 |
| RC403546 | F144v | 144 | 430 | T>G | Multiple endocrine neoplasia 1 |
| RC403547 | I147F | 147 | 439 | A>T | Multiple endocrine neoplasia 1 |
| RC403548 | T148P | 148 | 442 | A>C | Multiple endocrine neoplasia 1 |
| RC403549 | D153v | 153 | 458 | A>T | Hyperparathyroidism |
| RC403550 | D153Y | 153 | 457 | G>T | Multiple endocrine neoplasia 1 |
| RC403551 | S154I | 154 | 461 | G>T | Multiple endocrine neoplasia 1 |
| RC403552 | S155F | 155 | 464 | C>T | Multiple endocrine neoplasia 1 |
| RC403553 | G156D | 156 | 467 | G>A | Multiple endocrine neoplasia 1 |
| RC403554 | G156S | 156 | 466 | G>A | Multiple endocrine neoplasia 1 |
| RC403555 | G156C | 156 | 466 | G>T | Multiple endocrine neoplasia 1 |
| RC403556 | G156R | 156 | 466 | G>C | Multiple endocrine neoplasia 1 |
| RC403557 | A160P | 160 | 478 | G>C | Multiple endocrine neoplasia 1 |
| RC403558 | A160T | 160 | 478 | G>A | Multiple endocrine neoplasia 1 |
| RC403559 | v162F | 162 | 484 | G>T | Multiple endocrine neoplasia 1 |
| RC403560 | A164D | 164 | 491 | C>A | Multiple endocrine neoplasia 1 |
| RC403561 | C165Y | 165 | 494 | G>A | Multiple endocrine neoplasia 1 |
| RC403562 | C165R | 165 | 493 | T>C | Multiple endocrine neoplasia 1 |
| RC403563 | Q166X | 166 | 496 | C>T | Multiple endocrine neoplasia 1 |
| RC403564 | L168P | 168 | 503 | T>C | Multiple endocrine neoplasia 1 |
| RC403565 | R171Q | 171 | 512 | G>A | Multiple endocrine neoplasia 1 ? |
| RC403566 | R171W | 171 | 511 | C>T | Hyperparathyroidism |
| RC403567 | D172Y | 172 | 514 | G>T | Multiple endocrine neoplasia 1 |
| RC403568 | A176P | 176 | 526 | G>C | Multiple endocrine neoplasia 1 |
| RC403569 | L177P | 177 | 530 | T>C | Multiple endocrine neoplasia 1 ? |
| RC403570 | E179D | 179 | 537 | G>T | Multiple endocrine neoplasia 1 |
| RC403571 | E179K | 179 | 535 | G>A | Multiple endocrine neoplasia 1 |
| RC403572 | E179Q | 179 | 535 | G>C | Multiple endocrine neoplasia 1 |
| RC403573 | H181R | 181 | 542 | A>G | Multiple endocrine neoplasia 1 |
| RC403574 | W183C | 183 | 549 | G>C | Multiple endocrine neoplasia 1 ? |
| RC403575 | W183X | 183 | 549 | G>A | Multiple endocrine neoplasia 1 |
| RC403576 | W183S | 183 | 548 | G>C | Multiple endocrine neoplasia 1 |
| RC403577 | W183X | 183 | 548 | G>A | Multiple endocrine neoplasia 1 |
| RC403578 | W183R | 183 | 547 | T>C | Multiple endocrine neoplasia 1 |
| RC403579 | v184E | 184 | 551 | T>A | Hyperparathyroidism |
| RC403580 | E191X | 191 | 571 | G>T | Multiple endocrine neoplasia 1 |
| RC403581 | Q192X | 192 | 574 | C>T | Hyperparathyroidism |
| RC403582 | T193I | 193 | 578 | C>T | Multiple endocrine neoplasia 1 |
| RC403583 | E195G | 195 | 584 | A>G | Multiple endocrine neoplasia 1 |
| RC403584 | T197I | 197 | 590 | C>T | Hyperparathyroidism ? |
| RC403585 | W198X | 198 | 594 | G>A | Multiple endocrine neoplasia 1 |
| RC403586 | W198X | 198 | 593 | G>A | Multiple endocrine neoplasia 1 |
| RC403587 | Q209X | 209 | 625 | C>T | Multiple endocrine neoplasia 1 |
| RC403588 | v215M | 215 | 643 | G>A | Multiple endocrine neoplasia 1 |
| RC403589 | W220X | 220 | 660 | G>A | Multiple endocrine neoplasia 1 |
| RC403590 | W220S | 220 | 659 | G>C | Multiple endocrine neoplasia 1 |
| RC403591 | W220L | 220 | 659 | G>T | Hyperparathyroidism |
| RC403592 | W220X | 220 | 659 | G>A | Multiple endocrine neoplasia 1 |
| RC403593 | L223P | 223 | 668 | T>C | Multiple endocrine neoplasia 1 |
| RC403594 | K224X | 224 | 670 | A>T | Multiple endocrine neoplasia 1 |
| RC403595 | G225R | 225 | 673 | G>A | Multiple endocrine neoplasia 1 |
| RC403596 | S226X | 226 | 677 | C>G | Multiple endocrine neoplasia 1 |
| RC403597 | Y227X | 227 | 681 | C>G | Multiple endocrine neoplasia 1 |
| RC403598 | Y227X | 227 | 681 | C>A | Multiple endocrine neoplasia 1 |
| RC403599 | R229L | 229 | 686 | G>T | Multiple endocrine neoplasia 1 |
| RC403600 | R229H | 229 | 686 | G>A | Multiple endocrine neoplasia 1 |
| RC403601 | E235K | 235 | 703 | G>A | Multiple endocrine neoplasia 1 |
| RC403602 | C241F | 241 | 722 | G>T | Multiple endocrine neoplasia 1 |
| RC403603 | C241Y | 241 | 722 | G>A | Multiple endocrine neoplasia 1 |
| RC403604 | C241R | 241 | 721 | T>C | Multiple endocrine neoplasia 1 |
| RC403605 | A242v | 242 | 725 | C>T | Multiple endocrine neoplasia 1 |
| RC403606 | S253W | 253 | 758 | C>G | Parathyroid tumour |
| RC403607 | S253X | 253 | 758 | C>A | Multiple endocrine neoplasia 1 |
| RC403608 | S253L | 253 | 758 | C>T | Multiple endocrine neoplasia 1 |
| RC403609 | S253P | 253 | 757 | T>C | Multiple endocrine neoplasia 1 |
| RC403610 | E255K | 255 | 763 | G>A | Hyperparathyroidism |
| RC403611 | L256F | 256 | 766 | C>T | Multiple endocrine neoplasia 1 |
| RC403612 | Q258X | 258 | 772 | C>T | Multiple endocrine neoplasia 1 |
| RC403613 | L259R | 259 | 776 | T>G | Multiple endocrine neoplasia 1 |
| RC403614 | L259P | 259 | 776 | T>C | Multiple endocrine neoplasia 1 |
| RC403615 | Q260P | 260 | 779 | A>C | Hyperparathyroidism |
| RC403616 | Q260X | 260 | 778 | C>T | Multiple endocrine neoplasia 1 |
| RC403617 | Q261X | 261 | 781 | C>T | Multiple endocrine neoplasia 1 |
| RC403618 | K262X | 262 | 784 | A>T | Multiple endocrine neoplasia 1 |
| RC403619 | L264P | 264 | 791 | T>C | Multiple endocrine neoplasia 1 |
| RC403620 | W265X | 265 | 795 | G>A | Multiple endocrine neoplasia 1 |
| RC403621 | W265X | 265 | 794 | G>A | Multiple endocrine neoplasia 1 |
| RC403622 | L267P | 267 | 800 | T>C | Hyperparathyroidism |
| RC403623 | Y268X | 268 | 804 | T>A | Multiple endocrine neoplasia 1 |
| RC403624 | Y268X | 268 | 804 | T>G | Multiple endocrine neoplasia 1 |
| RC403625 | G271X | 271 | 811 | G>T | Multiple endocrine neoplasia 1 |
| RC403626 | E274A | 274 | 821 | A>C | Parathyroid tumour |
| RC403627 | Y276X | 276 | 828 | C>A | Multiple endocrine neoplasia 1 |
| RC403628 | P277H | 277 | 830 | C>A | Hyperparathyroidism |
| RC403629 | G281R | 281 | 841 | G>C | Multiple endocrine neoplasia 1 |
| RC403630 | G281R | 281 | 841 | G>A | Multiple endocrine neoplasia 1 |
| RC403631 | A284E | 284 | 851 | C>A | Multiple endocrine neoplasia 1 |
| RC403632 | L286P | 286 | 857 | T>C | Multiple endocrine neoplasia 1 |
| RC403633 | L301R | 301 | 902 | T>G | Multiple endocrine neoplasia 1 |
| RC403634 | G305D | 305 | 914 | G>A | Hyperparathyroidism |
| RC403635 | S308X | 308 | 923 | C>A | Multiple endocrine neoplasia 1 |
| RC403636 | A309P | 309 | 925 | G>C | Multiple endocrine neoplasia 1 |
| RC403637 | T311P | 311 | 931 | A>C | Multiple endocrine neoplasia 1 |
| RC403638 | Y312X | 312 | 936 | C>A | Multiple endocrine neoplasia 1 |
| RC403639 | Y312X | 312 | 936 | C>G | Multiple endocrine neoplasia 1 |
| RC403640 | Y313X | 313 | 939 | T>G | Multiple endocrine neoplasia 1 |
| RC403641 | R314P | 314 | 941 | G>C | Multiple endocrine neoplasia 1 |
| RC403642 | D315Y | 315 | 943 | G>T | Multiple endocrine neoplasia 1 |
| RC403643 | E316X | 316 | 946 | G>T | Multiple endocrine neoplasia 1 |
| RC403644 | H317R | 317 | 950 | A>G | Multiple endocrine neoplasia 1 |
| RC403645 | H317Y | 317 | 949 | C>T | Multiple endocrine neoplasia 1 |
| RC403646 | P320R | 320 | 959 | C>G | Multiple endocrine neoplasia 1 |
| RC403647 | P320L | 320 | 959 | C>T | Multiple endocrine neoplasia 1 |
| RC403648 | Y323X | 323 | 969 | C>A | Multiple endocrine neoplasia 1 |
| RC403649 | Y323X | 323 | 969 | C>G | Multiple endocrine neoplasia 1 |
| RC403650 | A325P | 325 | 973 | G>C | Multiple endocrine neoplasia 1 |
| RC403651 | A337D | 337 | 1010 | C>A | Multiple endocrine neoplasia 1 |
| RC403652 | A337P | 337 | 1009 | G>C | Multiple endocrine neoplasia 1 |
| RC403653 | L338P | 338 | 1013 | T>C | Multiple endocrine neoplasia 1 |
| RC403654 | Q339X | 339 | 1015 | C>T | Multiple endocrine neoplasia 1 |
| RC403655 | W341X | 341 | 1023 | G>A | Multiple endocrine neoplasia 1 |
| RC403656 | W341X | 341 | 1022 | G>A | Multiple endocrine neoplasia 1 |
| RC403657 | W341R | 341 | 1021 | T>C | Multiple endocrine neoplasia 1 |
| RC403658 | W341R | 341 | 1021 | T>A | Multiple endocrine neoplasia 1 |
| RC403659 | A342P | 342 | 1024 | G>C | Multiple endocrine neoplasia 1 |
| RC403660 | T344R | 344 | 1031 | C>G | Multiple endocrine neoplasia 1 |
| RC403661 | I348N | 348 | 1043 | T>A | Multiple endocrine neoplasia 1 |
| RC403662 | Q349X | 349 | 1045 | C>T | Multiple endocrine neoplasia 1 |
| RC403663 | D350v | 350 | 1049 | A>T | Multiple endocrine neoplasia 1 |
| RC403664 | Y351X | 351 | 1053 | C>G | Multiple endocrine neoplasia 1 |
| RC403665 | Y351H | 351 | 1051 | T>C | Multiple endocrine neoplasia 1 |
| RC403666 | Y351N | 351 | 1051 | T>A | Hyperparathyroidism |
| RC403667 | Y353X | 353 | 1059 | C>A | Multiple endocrine neoplasia 1 |
| RC403668 | Y353D | 353 | 1057 | T>G | Multiple endocrine neoplasia 1 |
| RC403669 | C354X | 354 | 1062 | C>A | Multiple endocrine neoplasia 1 |
| RC403670 | R355W | 355 | 1063 | C>T | Multiple endocrine neoplasia 1 |
| RC403671 | D357H | 357 | 1069 | G>C | Multiple endocrine neoplasia 1 |
| RC403672 | E358X | 358 | 1072 | G>T | Multiple endocrine neoplasia 1 |
| RC403673 | K362X | 362 | 1084 | A>T | Multiple endocrine neoplasia 1 |
| RC403674 | F364C | 364 | 1091 | T>G | Multiple endocrine neoplasia 1 |
| RC403675 | E366D | 366 | 1098 | A>T | Multiple endocrine neoplasia 1 |
| RC403676 | E366X | 366 | 1096 | G>T | Hyperparathyroidism |
| RC403677 | A368D | 368 | 1103 | C>A | Multiple endocrine neoplasia 1 |
| RC403678 | I372M | 372 | 1116 | C>G | Multiple endocrine neoplasia 1 |
| RC403679 | P373S | 373 | 1117 | C>T | Multiple endocrine neoplasia 1 |
| RC403680 | L375P | 375 | 1124 | T>C | Multiple endocrine neoplasia 1 |
| RC403681 | L376P | 376 | 1127 | T>C | Multiple endocrine neoplasia 1 |
| RC403682 | A385v | 385 | 1154 | C>T | Multiple endocrine neoplasia 1 |
| RC403683 | E388X | 388 | 1162 | G>T | Multiple endocrine neoplasia 1 |
| RC403684 | E392X | 392 | 1174 | G>T | Multiple endocrine neoplasia 1 |
| RC403685 | Q393X | 393 | 1177 | C>T | Multiple endocrine neoplasia 1 |
| RC403686 | Q395X | 395 | 1183 | C>T | Multiple endocrine neoplasia 1 |
| RC403687 | Q398X | 398 | 1192 | C>T | Multiple endocrine neoplasia 1 |
| RC403688 | Q405X | 405 | 1213 | C>T | Multiple endocrine neoplasia 1 |
| RC403689 | C409X | 409 | 1227 | C>A | Multiple endocrine neoplasia 1 |
| RC403690 | A411P | 411 | 1231 | G>C | Hyperparathyroidism |
| RC403691 | L413P | 413 | 1238 | T>C | Multiple endocrine neoplasia 1 |
| RC403692 | L413R | 413 | 1238 | T>G | Multiple endocrine neoplasia 1 |
| RC403693 | L414P | 414 | 1241 | T>C | Multiple endocrine neoplasia 1 |
| RC403694 | L414Q | 414 | 1241 | T>A | Multiple endocrine neoplasia 1 |
| RC403695 | R415P | 415 | 1244 | G>C | Multiple endocrine neoplasia 1 |
| RC403696 | R415X | 415 | 1243 | C>T | Multiple endocrine neoplasia 1 |
| RC403697 | Y417X | 417 | 1251 | C>A | Multiple endocrine neoplasia 1 |
| RC403698 | Y417X | 417 | 1251 | C>G | Multiple endocrine neoplasia 1 |
| RC403699 | D418H | 418 | 1252 | G>C | Hyperparathyroidism ? |
| RC403700 | D418N | 418 | 1252 | G>A | Multiple endocrine neoplasia 1 |
| RC403701 | C421Y | 421 | 1262 | G>A | Multiple endocrine neoplasia 1 |
| RC403702 | W423X | 423 | 1269 | G>A | Multiple endocrine neoplasia 1 |
| RC403703 | W423X | 423 | 1268 | G>A | Multiple endocrine neoplasia 1 |
| RC403704 | W423S | 423 | 1268 | G>C | Multiple endocrine neoplasia 1 |
| RC403705 | W423R | 423 | 1267 | T>C | Multiple endocrine neoplasia 1 |
| RC403706 | S427R | 427 | 1281 | T>A | Multiple endocrine neoplasia 1 |
| RC403707 | S427I | 427 | 1280 | G>T | Multiple endocrine neoplasia 1 |
| RC403708 | W436X | 436 | 1308 | G>A | Multiple endocrine neoplasia 1 |
| RC403709 | W436C | 436 | 1308 | G>T | Multiple endocrine neoplasia 1 |
| RC403710 | W436X | 436 | 1307 | G>A | Multiple endocrine neoplasia 1 |
| RC403711 | W436R | 436 | 1306 | T>C | Multiple endocrine neoplasia 1 |
| RC403712 | Q442X | 442 | 1324 | C>T | Multiple endocrine neoplasia 1 |
| RC403713 | S443Y | 443 | 1328 | C>A | Multiple endocrine neoplasia 1 |
| RC403714 | L444P | 444 | 1331 | T>C | Multiple endocrine neoplasia 1 |
| RC403715 | F447S | 447 | 1340 | T>C | Multiple endocrine neoplasia 1 |
| RC403716 | F447L | 447 | 1339 | T>C | Multiple endocrine neoplasia 1 |
| RC403717 | Q450X | 450 | 1348 | C>T | Multiple endocrine neoplasia 1 |
| RC403718 | Q453X | 453 | 1357 | C>T | Multiple endocrine neoplasia 1 |
| RC403719 | R460X | 460 | 1378 | C>T | Multiple endocrine neoplasia 1 |
| RC403720 | E463X | 463 | 1387 | G>T | Multiple endocrine neoplasia 1 |
| RC403721 | E468X | 468 | 1402 | G>T | Multiple endocrine neoplasia 1 |
| RC403722 | W471C | 471 | 1413 | G>T | Multiple endocrine neoplasia 1 |
| RC403723 | W471X | 471 | 1413 | G>A | Multiple endocrine neoplasia 1 |
| RC403724 | E473X | 473 | 1417 | G>T | Multiple endocrine neoplasia 1 |
| RC403725 | E477X | 477 | 1429 | G>T | Multiple endocrine neoplasia 1 |
| RC403726 | Q508X | 508 | 1522 | C>T | Multiple endocrine neoplasia 1 |
| RC403727 | Q508K | 508 | 1522 | C>A | Multiple endocrine neoplasia 1 |
| RC403728 | R516G | 516 | 1546 | C>G | Multiple endocrine neoplasia 1 |
| RC403729 | R527X | 527 | 1579 | C>T | Multiple endocrine neoplasia 1 |
| RC403730 | E530X | 530 | 1588 | G>T | Multiple endocrine neoplasia 1 |
| RC403731 | G532C | 532 | 1594 | G>T | Multiple endocrine neoplasia 1 |
| RC403732 | Q536X | 536 | 1606 | C>T | Multiple endocrine neoplasia 1 |
| RC403733 | P540S | 540 | 1618 | C>T | Multiple endocrine neoplasia 1 |
| RC403734 | A541T | 541 | 1621 | G>A | Impaired sensitisation to apoptosis, association with |
| RC403735 | P544S | 544 | 1630 | C>T | Multiple endocrine neoplasia 1 |
| RC403736 | Q554X | 554 | 1660 | C>T | Multiple endocrine neoplasia 1 |
| RC403737 | S555N | 555 | 1664 | G>A | Multiple endocrine neoplasia 1 |
| RC403738 | S555R | 555 | 1663 | A>C | Multiple endocrine neoplasia 1 |
| RC403739 | E556X | 556 | 1666 | G>T | Multiple endocrine neoplasia 1 |
| RC403740 | K557E | 557 | 1669 | A>G | Multiple endocrine neoplasia 1 |
| RC403741 | M558K | 558 | 1673 | T>A | Multiple endocrine neoplasia 1 |
| RC403742 | K559X | 559 | 1675 | A>T | Multiple endocrine neoplasia 1 |
| RC403743 | E563X | 563 | 1687 | G>T | Multiple endocrine neoplasia 1 |
| RC403744 | S572X | 572 | 1715 | C>A | Multiple endocrine neoplasia 1 |
| RC403745 | I575N | 575 | 1724 | T>A | Multiple endocrine neoplasia 1 ? |
| RC403746 | L579P | 579 | 1736 | T>C | Multiple endocrine neoplasia 1 |
