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The mutations reported from Factor IX are listed below: Click on the highlighted residues for further information on mutation. MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNL ERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCP FGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGR VSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRII PHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVF HKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVE GTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT Missense Position* Wild type Mutant Domain PMID 43 Arg Gln   21118338 43 Arg Trp   21118338 48 Asn Asp Gla 2198809 48 Asn Tyr Gla 10739381 49 Ser Pro Gla 10094553 51 Lys Ala Gla 20829681, 20510102, 19923982, 20860169, 51 Lys Arg Gla 1400370 52 Leu Ser Gla 12588353 53 Glu Gly Gla 15921378 53 Glu Lys Gla 10739381 53 Glu Val Gla 10739381 54 Glu Asp Gla 16270648 55 Phe Cys Gla 10094553 55 Phe Ile Gla 15921378 56 Val Thr Gla 12360981 58 Gly Ala Gla 1680373 58 Gly Arg Gla 8632006 58 Gly Glu Gla 8632006 58 Gly Val Gla 16270648 63 Glu Lys Gla 15613048 63 Glu Val Gla 16270648 64 Cys Arg Gla 7487929 64 Cys Tyr Gla 15590401 67 Glu Asp Gla 8756687 67 Glu Lys Gla 1871712 69 Cys Arg Gla 1796396 69 Cys Tyr Gla 7487929 71 Phe Cys Gla 15921378 72 Glu Gln Gla 10874302 72 Glu Gly Gla 10874302 73 Glu Ala Gla 10595634 73 Glu Asp Gla 10595634 73 Glu Lys Gla 2472424 73 Glu Val Gla 2339358 75 Arg Gln Gla 1972560 75 Arg Pro Gla 10647899 76 Glu Gln Gla 15921378 79 Glu Ala Gla 10874302 79 Glu Asp Gla 2472424 79 Glu Lys Gla 15569175 84 Thr Arg Gla 12604421, 11025603 84 Thr Ile Gla 7974379 85 Thr Ile Gla 2713493 87 Phe Cys Gla 15921378 87 Phe Val Gla 10595634 91 Tyr Cys Gla 11013449 92 Val Ala Gla 10874302 92 Val Glu Gla 9468287 93 Asp Asn EGF-like 1; calcium-bindi 11013449 93 Asp Gly EGF-like 1; calcium-bindi 2105717 93 Asp Lys EGF-like 1; calcium-bindi 3262057 93 Asp Val EGF-like 1; calcium-bindi 7974379 94 Gly Arg EGF-like 1; calcium-bindi 20829681, 20510102, 19923982, 20860169, 94 Gly Val EGF-like 1; calcium-bindi 11057861 95 Asp Glu EGF-like 1; calcium-bindi 3262057 95 Asp Gly EGF-like 1; calcium-bindi 10739381 95 Asp Tyr EGF-like 1; calcium-bindi 10739381 95 Asp Val EGF-like 1; calcium-bindi 10874302 96 Gln Glu EGF-like 1; calcium-bindi 9468287 96 Gln Pro EGF-like 1; calcium-bindi 9468287, 2306516 97 Cys Ser EGF-like 1; calcium-bindi 10094553 97 Cys Trp EGF-like 1; calcium-bindi 10595634 97 Cys Tyr EGF-like 1; calcium-bindi 10583255, 17014892 101 Pro Ala EGF-like 1; calcium-bindi 2169923 101 Pro Arg EGF-like 1; calcium-bindi 10094553 101 Pro Gln EGF-like 1; calcium-bindi 8434583 101 Pro Leu EGF-like 1; calcium-bindi 12871416, 11328285 101 Pro Ser EGF-like 1; calcium-bindi 12871416, 11328285 102 Cys Arg EGF-like 1; calcium-bindi 2014182 102 Cys Ser EGF-like 1; calcium-bindi 10595634 102 Cys Tyr EGF-like 1; calcium-bindi 10874302 105 Gly Asp EGF-like 1; calcium-bindi 10739381 105 Gly Ser EGF-like 1; calcium-bindi 7989034 105 Gly Val EGF-like 1; calcium-bindi 1897528 106 Gly Arg EGF-like 1; calcium-bindi 1897528 106 Gly Asp EGF-like 1; calcium-bindi 2198809 106 Gly Cys EGF-like 1; calcium-bindi 21118338 106 Gly Ser EGF-like 1; calcium-bindi 17308903, 18479429, 9525872, 2472424, 3262389, 1916816 108 Cys Phe EGF-like 1; calcium-bindi 15921378 108 Cys Ser EGF-like 1; calcium-bindi 10094553 108 Cys Trp EGF-like 1; calcium-bindi 15921378 110 Asp Asn EGF-like 1; calcium-bindi 1998585 110 Asp Gly EGF-like 1; calcium-bindi 2169923 110 Asp Lys EGF-like 1; calcium-bindi 3262057 110 Asp Tyr EGF-like 1; calcium-bindi 10874302 112 Ile Asn EGF-like 1; calcium-bindi 15569175 112 Ile Ser EGF-like 1; calcium-bindi 10094553 112 Ile Thr EGF-like 1; calcium-bindi 17230038 113 Asn Lys EGF-like 1; calcium-bindi 9222764 115 Tyr Asn EGF-like 1; calcium-bindi 10647899 115 Tyr Cys EGF-like 1; calcium-bindi 9600455 115 Tyr Ser EGF-like 1; calcium-bindi 8705874 117 Cys Tyr EGF-like 1; calcium-bindi 10595634, 15219198 123 Phe Tyr EGF-like 1; calcium-bindi 11328285 124 Glu Asp EGF-like 1; calcium-bindi 9417068, 3262057 124 Glu Lys EGF-like 1; calcium-bindi 9417068 125 Gly Arg EGF-like 1; calcium-bindi 12604421 125 Gly Glu EGF-like 1; calcium-bindi 10094553 125 Gly Val EGF-like 1; calcium-bindi 12604421, 10094553 128 Cys Ser EGF-like 1; calcium-bindi 15921378 128 Cys Tyr EGF-like 1; calcium-bindi 11013449 134 Cys Arg EGF-like 2 15921378 134 Cys Phe EGF-like 2 10612837 134 Cys Ser EGF-like 2 15921378 134 Cys Tyr EGF-like 2 10612837 135 Asn Ala EGF-like 2 15328360 136 Ile Ala EGF-like 2 15328360 137 Lys Ala EGF-like 2 15328360 138 Asn Asp EGF-like 2 15590401 138 Asn His EGF-like 2 15590401 138 Asn Ser EGF-like 2 10874302 139 Gly Asp EGF-like 2 17014892 139 Gly Ser EGF-like 2 15921378 140 Arg Ala EGF-like 2 15328360 140 Arg Asp EGF-like 2 9417068 140 Arg Ser EGF-like 2 9417068, 10381508 141 Cys Arg EGF-like 2 15921378 141 Cys Trp EGF-like 2 17014892 141 Cys Tyr EGF-like 2   142 Glu Gly EGF-like 2 15613048 142 Glu Lys EGF-like 2   143 Gln Glu EGF-like 2 15921378 143 Gln Lys EGF-like 2 15921378 145 Cys Arg EGF-like 2 2198809 145 Cys Tyr EGF-like 2 15219198 150 Asp Ala EGF-like 2 15328360 151 Asn Ala EGF-like 2 15328360 153 Val Ala EGF-like 2 15328360 153 Val Met EGF-like 2 15921378 155 Cys Phe EGF-like 2 9600455 155 Cys Ser EGF-like 2 15921378 155 Cys Tyr EGF-like 2   156 Ser Pro EGF-like 2 21118338 157 Cys Ser EGF-like 2 10612837 157 Cys Tyr EGF-like 2 10612837 160 Gly Arg EGF-like 2 17014892 160 Gly Val EGF-like 2 15086324 161 Tyr Cys EGF-like 2 10874302 162 Arg Gln EGF-like 2 1972560 163 Leu Phe EGF-like 2 15921378 166 Asn Tyr EGF-like 2 2743975 169 Ser Cys EGF-like 2 11122099 170 Cys Arg EGF-like 2 15921378 170 Cys Phe EGF-like 2 12604421 170 Cys Ser EGF-like 2 11013449 170 Cys Tyr EGF-like 2 10647899, 15590401 177 Pro Ser   10739381 178 Cys Arg   10094553 178 Cys Phe   11328285 178 Cys Tyr   10192459 180 Arg Gly   1651755 191 Arg Cys     191 Arg His     191 Arg Leu   15921378 218 Thr Pro   15590401 226 Arg Gln   1972560 226 Arg Glu   16270648 226 Arg Gly   12588353 226 Arg Trp   20829681, 20510102, 19923982, 20860169, 227 Val Ala Peptidase S1 8518277 227 Val Ile Peptidase S1 8518277 228 Val Ala Peptidase S1 8518277 228 Val Gly Peptidase S1 8518277 228 Val Leu Peptidase S1 2372509 228 Val Phe Peptidase S1 2753873 230 Gly Arg Peptidase S1 15613048 236 Gly Asp Peptidase S1 12687663 236 Gly Val Peptidase S1 21301787 239 Pro Arg Peptidase S1 16270648 240 Trp Cys Peptidase S1 10647899 241 Gln His Peptidase S1 10094553 241 Gln Lys Peptidase S1 12588353 243 Val Ile Peptidase S1 11013449 244 Leu Ser Peptidase S1 16643212 252 Cys Ser Peptidase S1 1615485 252 Cys Tyr Peptidase S1 8499919 253 Gly Arg Peptidase S1 7915915 253 Gly Glu Peptidase S1 7915915 253 Gly Val Peptidase S1 10874302 254 Gly Ser Peptidase S1 15086324 254 Gly Val Peptidase S1 15921378 257 Val Ile Peptidase S1 1972560, 19522246 262 Ile Phe Peptidase S1 15921378 262 Ile Thr Peptidase S1 2198809 263 Val Glu Peptidase S1 10874302 264 Thr Pro Peptidase S1 15590401 265 Ala Asp Peptidase S1 12941051 265 Ala Pro Peptidase S1 15613048 267 His Arg Peptidase S1   267 His Gln Peptidase S1 10595634 267 His Tyr Peptidase S1 11328285 268 Cys Arg Peptidase S1 15921378 268 Cys Gly Peptidase S1 10647899 268 Cys Trp Peptidase S1 2773937 277 Val Phe Peptidase S1 15921378 279 Ala Thr Peptidase S1 1972560 280 Gly Arg Peptidase S1 15921378 280 Gly Ser Peptidase S1 15921378 281 Glu Lys Peptidase S1 7740454 282 His Gln Peptidase S1 15590401, 15357782 291 Glu Val Peptidase S1 1346975 294 Arg Gln Peptidase S1 1346975 296 Val Glu Peptidase S1 15921378 298 Arg Gln Peptidase S1 1972560 302 His Arg Peptidase S1 10094553, 12604421 305 Tyr Asn Peptidase S1 10874302 305 Tyr Cys Peptidase S1 11013449 306 Asn Ser Peptidase S1 2773937 311 Lys Ala Peptidase S1 10858287 314 His Arg Peptidase S1 10192459 314 His Gln Peptidase S1 15590401 315 Asp Val Peptidase S1 11328285 316 Ile Phe Peptidase S1 10094553 317 Ala Thr Peptidase S1 21118338 317 Ala Val Peptidase S1 18479429 318 Leu Arg Peptidase S1 12588353 319 Leu Arg Peptidase S1 17014892 328 Asn Tyr Peptidase S1 16643212 330 Tyr Cys Peptidase S1 10647899 331 Val Ile Peptidase S1 1972560 333 Pro His Peptidase S1 10094553 333 Pro Thr Peptidase S1 11122099 335 Cys Phe Peptidase S1 8499919 335 Cys Ser Peptidase S1 16270648 335 Cys Tyr Peptidase S1 15921378 337 Ala Thr Peptidase S1 2726481 339 Lys Glu Peptidase S1 10595634 342 Thr Ala Peptidase S1 15921378 342 Thr Arg Peptidase S1 16270648 342 Thr Met Peptidase S1 12604421, 9100030, 1916816 344 Ile Leu Peptidase S1 12604421 347 Lys Ile Peptidase S1 15921378 351 Gly Asp Peptidase S1 10094553 351 Gly Val Peptidase S1 15921378 353 Val Gly Peptidase S1 11328285 355 Gly Asp Peptidase S1 10874302 355 Gly Val Peptidase S1 1680287 356 Trp Gly Peptidase S1 15921378 357 Gly Arg Peptidase S1 10647899 357 Gly Glu Peptidase S1 1958666 358 Arg Gly Peptidase S1 15921378 359 Val Asp Peptidase S1 1958666 362 Lys Ala Peptidase S1 10970782 362 Lys Glu Peptidase S1 10970782 363 Gly Glu Peptidase S1 16643212 363 Gly Trp Peptidase S1 10094553 366 Ala Asp Peptidase S1 10094553 366 Ala Gly Peptidase S1 15921378 369 Leu Phe Peptidase S1 15921378 369 Leu Val Peptidase S1 17014892 374 Val Ile Peptidase S1 2096489 374 Val Phe Peptidase S1 2320433 376 Leu Ile Peptidase S1 10605707 377 Val Phe Peptidase S1 10595634 379 Arg Gln Peptidase S1 1972560 379 Arg Gly Peptidase S1 12588353 379 Arg Leu Peptidase S1 1897528 379 Arg Pro Peptidase S1 15921378 380 Ala Asp Peptidase S1 11328285 381 Thr Lys Peptidase S1 17014892 382 Cys Arg Peptidase S1 1986380 382 Cys Tyr Peptidase S1 10094553 383 Leu Ile Peptidase S1 12588353 383 Leu Phe Peptidase S1 12588353 383 Leu Pro Peptidase S1 8499919 384 Arg Ala Peptidase S1 18763099, 16257919 384 Arg Gln Peptidase S1 1972560 384 Arg Leu Peptidase S1 20605624, 19846852 384 Arg Pro Peptidase S1 8499919 387 Lys Glu Peptidase S1 9600455 390 Ile Asn Peptidase S1 15921378 390 Ile Phe Peptidase S1 10942410 390 Ile Ser Peptidase S1 10647899 390 Ile Thr Peptidase S1 10942410 392 Asn Asp Peptidase S1 11583320 394 Met Arg Peptidase S1 15921378 394 Met Ile Peptidase S1 15086324 394 Met Lys Peptidase S1 10094553 395 Phe Ile Peptidase S1 8990015 395 Phe Leu Peptidase S1 12604421, 11013449 395 Phe Val Peptidase S1 15842381 396 Cys Phe Peptidase S1 11013449 396 Cys Ser Peptidase S1 1986380 396 Cys Tyr Peptidase S1 15590401, 11328285 397 Ala Pro Peptidase S1 9590153 398 Gly Ala Peptidase S1 10595634 398 Gly Ser Peptidase S1 10874302 401 Glu Lys Peptidase S1 17014892 404 Arg Thr Peptidase S1 10094553 405 Asp Asn Peptidase S1 10874302 406 Ser Leu Peptidase S1 7989034 407 Cys Arg Peptidase S1 12588353 407 Cys Phe Peptidase S1 10874302 407 Cys Tyr Peptidase S1 15921378 408 Gln Glu Peptidase S1 11551226 408 Gln Lys Peptidase S1 11551226 409 Gly Ala Peptidase S1 8076948 409 Gly Val Peptidase S1 1346975 410 Asp Glu Peptidase S1 15921378 410 Asp Gly Peptidase S1 10874302 410 Asp His Peptidase S1 1346975 410 Asp Tyr Peptidase S1 11013449 410 Asp Val Peptidase S1 1346975 411 Ser Arg Peptidase S1 1346975 411 Ser Gly Peptidase S1 1346975 411 Ser Ile Peptidase S1 1346975 412 Gly Ala Peptidase S1 11013449 412 Gly Arg Peptidase S1 15918491 412 Gly Glu Peptidase S1 11013449 413 Gly Arg Peptidase S1 9222764 413 Gly Gln Peptidase S1 21118338 414 Pro His Peptidase S1 15921378 414 Pro Thr Peptidase S1 12604421, 2162822 415 His Arg Peptidase S1 15086324 419 Val Glu Peptidase S1 8199596 422 Thr Asn Peptidase S1 11328285 424 Phe Leu Peptidase S1 15613048 424 Phe Ser Peptidase S1 10874302 424 Phe Val Peptidase S1 9222764 426 Thr Ala Peptidase S1 11013449 426 Thr Ile Peptidase S1 15921378 426 Thr Pro Peptidase S1 8257988 426 Thr Ser Peptidase S1 1680373 427 Gly Arg Peptidase S1 15921378 427 Gly Glu Peptidase S1 15921378 430 Ser Thr Peptidase S1 10094553 431 Trp Arg Peptidase S1 10094553 431 Trp Cys Peptidase S1 7974379 431 Trp Gly Peptidase S1 10094553 432 Gly Ser Peptidase S1 11013449 432 Gly Val Peptidase S1 9600455 433 Glu Ala Peptidase S1 10094553 433 Glu Asp Peptidase S1 11551226 433 Glu Lys Peptidase S1 10094553 434 Glu Lys Peptidase S1 16643212 435 Cys Ser Peptidase S1 21118338 435 Cys Tyr Peptidase S1 20829681, 20510102, 19923982, 20860169, 436 Ala Glu Peptidase S1 2270538 436 Ala Thr Peptidase S1 11013449 436 Ala Val Peptidase S1 2105717 440 Lys Glu Peptidase S1 10647899 441 Tyr Cys Peptidase S1 16270648 442 Gly Glu Peptidase S1 12604421 443 Ile Thr Peptidase S1 1346975 443 Ile Val Peptidase S1 1907972 447 Val Glu Peptidase S1 16270648 448 Ser Tyr Peptidase S1 15569175 449 Arg Gln Peptidase S1 1972560 449 Arg Trp Peptidase S1 12604421, 9100030, 1972560 450 Tyr Cys Peptidase S1 9600455 454 Ile Asn Peptidase S1 15921378 Insertion Mutation Codon Exon/Intron Domain PMID  31035-31056insT    Exon 8    12604421  31222-31223insA    Exon 8    12604421  31133insT        10192459  31071-31079delGGAGATCAGinsA        15921378  30802insA    Intron G    15921378 Deletion Mutation Codon Exon/Intron Domain PMID  6396-6399delAG    Exon 2    19522246  1952-1960delACCGCACGC        15609295  31042-31051delAAGTGGCTGG    Exon 8  Catalytic  15590401  31057-31058delAG    Exon 8    12604421  30114delC        15921378  30852delC        15921378  31071-31079delGGAGATCAGinsA        15921378  31161-31163delACA        15921378  31355delA        15921378  17795-17797delCAG    exon5    21118338 Nonsense Mutation* Codon Exon/Intron Domain PMID  Cys28X    exon1    21118338  Glu72X    exon2    21118338  Arg75X    Exon 2  Gla  15590401, 15357782  Arg162X      EGF2  18434706  Gln237X    Exon 6  Peptidase S1  2212858  Gln241X      Peptidase S1  15921378  Arg294X    Exon 8  Peptidase S1  20301226, 19937244, 20331761, 20664902, 21429375, 20231421,  Arg298X      Peptidase S1  16051741, 2929599, 15921378  Tyr312X      Peptidase S1  15921378  Tyr330X      Peptidase S1  15921378  Gly349X      Peptidase S1  15921378  Gln370X      Peptidase S1  15921378  Arg379X    Exon 8  Peptidase S1  12604421, 9100030, 16051741, 15921378  Arg384X      Peptidase S1  8705874, 15921378, 18540891 Polymorphism Mutation* Codon Exon/Intron Domain PMID  Val132Val      EGF2  15590401  Val153Val    Exon 8  EGF2  18459950  Ala173Ala        12604421  Gly246Gly    Exon 5  Peptidase S1  15590401  Val359Val    Exon 5  Peptidase S1  15590401  Val416Val    Exon 8  Peptidase S1  15590401  6550G>C      Intron B  15921378  10512A>G      Intron D  15921378  20422G>A    Exon 7    17397055, 15921378  32847T>C        15921378 Splice site Mutation Codon Exon/Intron Domain PMID  10505+2T>C    intron4    21118338 * The positions are based on the protein sequence inclusive of the signal peptide if present.

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