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The mutations reported from Factor V are listed below: Click on the highlighted residues for further information on mutation. MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTS FKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYS KLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIE DFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNG TMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTV GPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVI WDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILG PIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGET YTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAA DIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTL GFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGT WMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEES DADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSP SNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPL QPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGS PSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQ DTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRL KKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPT DLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHS TSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELS QTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSP ELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMP ISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELS QTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSP DISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLND TFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINS SRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVF RKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKS SEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDI HSGLIGPLLICQKGILHKDSNMPVDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMK KSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLG VWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISD SQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQG AKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARY IRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFR ARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQ GVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFG CDIY Missense Position* Wild type Mutant Domain PMID 67 Trp Ser Plastocyanin-like 1 19787799 76 Phe Leu Plastocyanin-like 1 19748050 90 Leu Ser Plastocyanin-like 1 20546033 91 Tyr Asn Plastocyanin-like 1 18989519 96 Asp His Plastocyanin-like 1 20829681, 20510102, 19923982, 20860169, 119 Tyr Asn Plastocyanin-like 1 18989519 160 Pro Arg Plastocyanin-like 1 21777354 218 Phe Ser Plastocyanin-like 2 19052695 249 Ala Val Plastocyanin-like 2 12714495 259 Gly Glu Plastocyanin-like 2 20546033 262 Ser Leu Plastocyanin-like 2 19900106 262 Ser Trp Plastocyanin-like 2 17166249 334 Arg Gly   9454741 334 Arg Thr   9454742 353 Phe Leu Plastocyanin-like 3 17849061 387 Ile Thr Plastocyanin-like 3 14617013 420 Gly Cys Plastocyanin-like 3 15735820 441 Arg Cys Plastocyanin-like 3 19900106 445 Ile Thr Plastocyanin-like 3 16420587 500 Cys Gly Plastocyanin-like 3 12816860 513 Arg Lys Plastocyanin-like 3 11776127 521 Gly Arg Plastocyanin-like 3 19806267 534 Arg Gln   20829681, 20510102, 19923982, 20860169, 558 Tyr Ser Plastocyanin-like 4 20829681, 20510102, 19923982, 20860169, 613 Cys Arg Plastocyanin-like 4 11435304, 11435304 617 Val Phe Plastocyanin-like 4 19778528 678 Lys Glu Plastocyanin-like 4 19052695 684 Cys Tyr Plastocyanin-like 4 18788609 694 Glu Asp   20304467 741 Asn Ser     817 Asn Thr   10502835 980 Arg Cys   20829681, 20510102, 19923982, 20860169, 1327 His Arg   10942390, 9375735 1636 Glu Lys   15975136 1646 Pro Arg   19052695 1659 Arg Pro   20546033 1730 Tyr Cys   10942390 1803 His Arg   20546033 1841 Val Met   12816860, 18192108 1849 Leu Ser   20546033 1880 Gly Val   12697120 2034 Pro Ala   20510101 2060 Gly Asp   15194551 2098 Pro Leu   12871526 2102 Arg Cys   11858490 2102 Arg His   12393490 2107 Gly Val   18788609, 15946520 2126 Asp Tyr   18989519 2140 Gly Asp   16359508 2202 Arg Cys   20510101 2202 Arg Leu   18192108 2222 Asp Gly   14695293, 12624624 Insertion Mutation Codon Exon/Intron Domain PMID  5609-5610insCGTGGTT    Exon 17  A 3  17849061  4793insATTG    Exon 13  B  16420587  5038insA    Exon 15  A 3  12816860  1853insC    Exon 12  A 2  16476093  5403insG    Exon 16  A 3  11781258  6122-6123insAACAG    Exon 21  C 1  12816860  3706insTC    Exon 13  B  9759618  4793insATTG    Exon 13    10681265 Deletion Mutation Codon Exon/Intron Domain PMID  434delG    Exon 4  A 1  16732384  585delA    Exon 4  A 1  14575586  1130-1139delAAGAGGTG    Exon 7  A 1  11435304  4798delG    Exon 14  A 3  14511309  1516delTAC    Exon 10  A 2  17269939  2862delT    Exon 13  B  17269939, 11781258  1599delG    Exon 10  A 2  15735818  2238-2239delAG    Exon 13  B  15086325  2662-2663delAAor AG    Exon 13  B  17145618  2743delAC    Exon 13  B  11167768  3386delA    Exon 13  B  17145618  IVS24+1_+4delGTAG    Exon 13  B  18728029  3888delC    Exon 13  B  17145618  3924del4bp    Exon 13  B  9576178  4291-4294delC    Exon 13  B  11435304  52162delT    Exon 17  A 3  14531918  6157del5bp    Exon 22  C 1  18192108  6117del6bp    Exon 21  C 1  19052695  6212delG    Exon 23  C 1  16359508  6491del21bp    Exon 24  C 2  14531918  6523delG    Exon 24  C 2  14531918  2833-2834delAC    Exon 13  B  11167768  2857-2859delC        11167768  4014-4017delTCAG    Exon 13  B  9576178  6116-6121delGAACAG      C 1  19786944  1-bp deletion (Ile1890TyrfsX19)        21777354  205-Kb deletion    first seven exons    21614419  173-198dup (201-226dup)      A1 domain  20546033 Nonsense Mutation* Codon Exon/Intron Domain PMID  Gln1137X        20510101  Gly236X      A1 domain  20546033  Trp924X      B domain  20546033  Ser2086X      C2 domain  20546033  Glu119X    Exon 4  Plastocyanin 1  14617013  Lys310X    Exon 7  Plastocyanin 2  11435304  Arg506X    Exon 10  Plastocyanin 3  10494790  Arg712X    Exon 13  B  12816860, 18788609  Gln773X    Exon 13  B  11435304  Arg1002X    Exon 13  B  18728029, 12816860, 15735818  Arg1133X    Exon 13  B  11564077, 19786944, 18788609  Arg1606X    Exon 14  Plastocyanin 5  12816860, 15735818  Trp1854X    Exon 18  Plastocyanin 6  15735818  Gln1894X    Exon 19  Plastocyanin 6  16359508 Polymorphism Mutation* Codon Exon/Intron Domain PMID  Ser262Leu      Plastocyanin 2  19900106  Arg334Gly        20051284  Arg376Gly    Exon 8  Plastocyanin 3  20214832  Arg376Gln    Exon 8  Plastocyanin 3  20214832  Ser377Pro    Exon 8  Plastocyanin 3  20214832  His379Leu    Exon 8  Plastocyanin 3  20214832  Arg441Cys      Plastocyanin 3  19900106  Arg534Gln        20002539, 19947358, 19688103, 19378863, 19365521, 18685811, 18524690, 18521487, 18496379, 18160668, 19493508, 18160601, 17869046, 17550313, 20304467, 20051284  His629Gln    Exon 12  Plastocyanin 4  20214832  Phe679Leu    Exon 13  Plastocyanin 4  20214832  Ile736Asn    Exon 13  B  20214832  Ile736Ile    Exon 13  B  20214832  Asn741Asn    Exon 13  B  20214832  Ser767Ser    Exon 13  B  20214832  Lys858Arg    Exon 13  B  20214832  His865Arg    Exon 13  B  20214832  Gln874Glu    Exon 13  B  20214832  Lys925Glu    Exon 13  B  20214832  Leu931Leu    Exon 13  B  20214832  Leu932Ser    Exon 13  B  20214832  Leu932Phe    Exon 13  B  20214832  Leu933Val    Exon 13  B  20214832  Lys935Ile    Exon 13  B  20214832  Lys935Glu    Exon 13  B  20214832  Lys935Leu    Exon 13  B  20214832  Asn938Lys    Exon 13  B  20214832  Pro975Pro    Exon 13  B  20214832  A1090G        19715531, 18048087  Ser1268Ser    Exon 13  B  20214832  His1299Arg        19609209, 19395327, 19123042, 18803625, 18685811, 18048087  Leu1316Leu    Exon 13  B  20214832  Gly1317Asn    Exon 13  B  20214832  Met1319Ile    Exon 13  B  20214832  Gln1336Arg    Exon 13  B  20214832  Thr1365Thr    Exon 13  B  20214832  Thr1520Ser    Exon 13  B  20214832  G1628A        7795227, 14511309  G1691A        20148880, 19730248, 19703820, 19609209, 19604111, 19568454, 19733287, 19520684, 19520679, 19448164, 19404532, 19395327, 19353312, 19349859, 19263510, 19253755  Val1764Met    Exon 16  Plastocyanin 6  20214832  Arg2102His      C 2  18728029  A2663G        3110773  A2684G        3110773  A2863G        3110773  A4070G        19715531, 18160602, 17295258  C4279T        10798356  A5279G        11435304  A5380G        3092220 Splice site Mutation Codon Exon/Intron Domain PMID  IVS8+6T>C    Intron 8    18728029  IVS8-2A>G    Intron 8    15086325  1611G>T    Exon 10  A 2  11929802  IVS16-1G>T    Intron 16    20301226, 19937244, 20331761, 20664902  IVS21+1G>A    Intron 21    18728029  5419G>A    Exon 16  A 3  9157576  IVS18-12T>A    Intron 18    18310546  IVS19+3A>T    Intron 19    12871325  IVS24+1_+4delGTAG    Exon 13    18728029  IVS12+5G>A        21614419  IVS8 +268A?G        21320286  IVS7+1278        20546033  250+1G>A    intron2    20546033 * The positions are based on the protein sequence inclusive of the signal peptide if present.

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