Home > Mutations Untitled Document The mutations reported from Factor VIII are listed below: Click on the highlighted residues for further information on mutation. MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY Missense Position* Wild type Mutant Domain PMID 22ArgThrPlastocyanin-like 11185774425TyrCysPlastocyanin-like 11185774426LeuArgPlastocyanin-like 1864472826LeuProPlastocyanin-like 11185774430GluLysPlastocyanin-like 12002842233TrpGlyPlastocyanin-like 19341862 35TyrHisPlastocyanin-like 11080017136MetArgPlastocyanin-like 11219968648ArgLysPlastocyanin-like 1864472867LysAsnPlastocyanin-like 11155493575AspGluPlastocyanin-like 1775907483ProArgPlastocyanin-like 11818486589GlyAspPlastocyanin-like 1864472892GlyAlaPlastocyanin-like 11144264792GlySerPlastocyanin-like 12002842297AlaProPlastocyanin-like 11219968698GluLysPlastocyanin-like 1988631898GluValPlastocyanin-like 12033176199ValAspPlastocyanin-like 18644728101AspGlyPlastocyanin-like 19886318101AspHisPlastocyanin-like 111410838101AspValPlastocyanin-like 18644728108LysThrPlastocyanin-like 11908096110MetValPlastocyanin-like 11908096113HisArgPlastocyanin-like 17579394117LeuArgPlastocyanin-like 18644728117LeuPhePlastocyanin-like 111554935129GluValPlastocyanin-like 19450898132GluAlaPlastocyanin-like 116042406132GluAspPlastocyanin-like 19603440133TyrCysPlastocyanin-like 19886318135AspGlyPlastocyanin-like 18644728135AspTyrPlastocyanin-like 111410838137ThrAlaPlastocyanin-like 111554935141GluLysPlastocyanin-like 111442643144AspAsnPlastocyanin-like 120331761145AspHisPlastocyanin-like 19886318159ValAlaPlastocyanin-like 19886318163AsnLysPlastocyanin-like 19886318164GlyAspPlastocyanin-like 19886318179SerProPlastocyanin-like 19886318181ValMetPlastocyanin-like 17759074, 9886318185LysThrPlastocyanin-like 11924291186AspAsnPlastocyanin-like 118184865189SerLeuPlastocyanin-like 12510835195LeuProPlastocyanin-like 118184865197ValGlyPlastocyanin-like 119404520199ArgGln 10800171202SerArg 10408784202SerAsp 7579394219AlaAspPlastocyanin-like 28644728223GluAsnPlastocyanin-like 211748850224GlyTrpPlastocyanin-like 21924291252ThrIlePlastocyanin-like 212614369252ThrLysPlastocyanin-like 217550859253ValPhePlastocyanin-like 29603440254AsnSerPlastocyanin-like 218184865255GlyValPlastocyanin-like 211298607259ArgCysPlastocyanin-like 210215414261LeuProPlastocyanin-like 218184865267CysTyrPlastocyanin-like 211554935274TrpCysPlastocyanin-like 29326186275HisLeuPlastocyanin-like 27579394278GlyArgPlastocyanin-like 28644728280GlyAspPlastocyanin-like 218184865285ValGlyPlastocyanin-like 21908096, 7579394291GluGlyPlastocyanin-like 22835904291GluLysPlastocyanin-like 21356412295PheLeuPlastocyanin-like 210800171297ValAlaPlastocyanin-like 29886318299AsnIlePlastocyanin-like 28322269301ArgCysPlastocyanin-like 27579394301ArgHisPlastocyanin-like 21908096301ArgLeuPlastocyanin-like 28644728303AlaGluPlastocyanin-like 28759905, 9886318307IleSerPlastocyanin-like 210800171308SerLeuPlastocyanin-like 28449505312PheSerPlastocyanin-like 21908096313LeuArgPlastocyanin-like 220331761314ThrAlaPlastocyanin-like 21924291314ThrIlePlastocyanin-like 29886318322LeuGluPlastocyanin-like 221361035323GlyGluPlastocyanin-like 211298607327ArgHisPlastocyanin-like 219302446327LeuProPlastocyanin-like 28644728328PheSerPlastocyanin-like 221361035331IleValPlastocyanin-like 29603440339MetThrPlastocyanin-like 211748850342TyrCysPlastocyanin-like 220331761365TyrCys 21751985389GluGly 8644728391ArgCys 2506948, 1973901391ArgHis 2498882394AlaSer 18184865409GluGlyPlastocyanin-like 311410838427LysIlePlastocyanin-like 39886318431LeuPhePlastocyanin-like 319302446, 1924291437ArgTrpPlastocyanin-like 39886318439GlyTyrPlastocyanin-like 39886318439GlyValPlastocyanin-like 39829908444LysArgPlastocyanin-like 31908096450TyrAsnPlastocyanin-like 38322269450TyrAspPlastocyanin-like 315682412454ThrIlePlastocyanin-like 39886318455PheCysPlastocyanin-like 311748850466GlyGluPlastocyanin-like 311442643470ProLeuPlastocyanin-like 39886318470ProThrPlastocyanin-like 311442643474GlyArgPlastocyanin-like 39603440474GlyValPlastocyanin-like 318184865475GluLysPlastocyanin-like 311554935477GlyValPlastocyanin-like 312203998492TyrCysPlastocyanin-like 31924291, 9326186492TyrHisPlastocyanin-like 31908096496ProArgPlastocyanin-like 318184865498GlyArgPlastocyanin-like 39326186, 9603440503ArgHisPlastocyanin-like 311442643513GlyValPlastocyanin-like 318184865529LysAsnPlastocyanin-like 320331761541ThrSerPlastocyanin-like 39886318546ArgTrpPlastocyanin-like 31924291550ArgCysPlastocyanin-like 31924291550ArgGlyPlastocyanin-like 31924291550ArgHisPlastocyanin-like 320829681, 20510102, 19923982, 20860169, 553SerProPlastocyanin-like 39886318554SerCysPlastocyanin-like 311748850556ValAspPlastocyanin-like 39792405560ArgThrPlastocyanin-like 39886318561AspGlyPlastocyanin-like 31908096561AspTyrPlastocyanin-like 310612839, 12614369569ProArgPlastocyanin-like 318184865577SerPhe 8449505578ValAla 9886318579AspAla 11554935584GlnLysPlastocyanin-like 41924291585IleThrPlastocyanin-like 417550859586MetValPlastocyanin-like 411298607602ArgGlyPlastocyanin-like 411442643603SerArgPlastocyanin-like 49886318612ArgCysPlastocyanin-like 420829681, 20510102, 19923982, 20860169, 631AsnLysPlastocyanin-like 49450898633MetIlePlastocyanin-like 49886318637AsnAspPlastocyanin-like 47579394637AsnIlePlastocyanin-like 418184865637AsnSerPlastocyanin-like 410691849639TyrCysPlastocyanin-like 49341862644LeuValPlastocyanin-like 49603440649CysSerPlastocyanin-like 420028422653ValAlaPlastocyanin-like 48449505653ValMetPlastocyanin-like 48449505659LeuProPlastocyanin-like 48644728663AlaValPlastocyanin-like 41924291683TyrAsnPlastocyanin-like 49886318683TyrCysPlastocyanin-like 411554935686ThrArgPlastocyanin-like 49326186698PheLeuPlastocyanin-like 411554935699MetValPlastocyanin-like 49603440710GlyTrpPlastocyanin-like 411554935713AsnIlePlastocyanin-like 410886198717ArgLeuPlastocyanin-like 48759905717ArgTrpPlastocyanin-like 48759905720GlyAspPlastocyanin-like 49603440720GlyThrPlastocyanin-like 47759074721MetLeuPlastocyanin-like 49886318723AlaThrPlastocyanin-like 41908096725LeuGlnPlastocyanin-like 411857744727ValPhePlastocyanin-like 49603440742TyrCys 98863181012ValLeu 86447281057GluLys 19242911260AspGlu 86447281460AsnLys 84495051639ArgHis 185408921698IleThr 98863181699TyrPhe 2105906, 1908096, 193024461701GluLys 158109151708ArgCys 2104766, 21059061708ArgHis 20829681, 20510102, 19923982, 20860169, 1714ThrSerPlastocyanin-like 5122039981715ArgGlyPlastocyanin-like 513495671720AlaValPlastocyanin-like 5181848651723GluLysPlastocyanin-like 519088171728TyrCysPlastocyanin-like 521064801762PheLeuPlastocyanin-like 5181848651777LeuProPlastocyanin-like 5122039981779GlyArgPlastocyanin-like 598863181780ProGlnPlastocyanin-like 5195489041788AspHisPlastocyanin-like 5115549351791MetThrPlastocyanin-like 598863181800ArgCysPlastocyanin-like 598299081800ArgHisPlastocyanin-like 51908096, 15682412, 193024461801ProAlaPlastocyanin-like 598863181802TyrCysPlastocyanin-like 5156824121803SerTyrPlastocyanin-like 519080961808LeuPhePlastocyanin-like 575793941810SerProPlastocyanin-like 520829681, 20510102, 19923982, 20860169, 1844ProSerPlastocyanin-like 519242911853AlaThrPlastocyanin-like 577590741856TyrSerPlastocyanin-like 5201932501865AspAsnPlastocyanin-like 586447281867HisArgPlastocyanin-like 519242911867HisProPlastocyanin-like 575793941869GlyAspPlastocyanin-like 5118577441869GlyValPlastocyanin-like 59792405, 10612839, 126143691873ProTyrPlastocyanin-like 586447281876ValLeuPlastocyanin-like 5115549351888ArgIlePlastocyanin-like 677590741894GluGlyPlastocyanin-like 694521041901IlePhePlastocyanin-like 698863181908TrpLeuPlastocyanin-like 693418621909TyrCysPlastocyanin-like 6108001711938HisArgPlastocyanin-like 6203317611941AsnAspPlastocyanin-like 62106480, 1908096 1941AsnSerPlastocyanin-like 620829681, 20510102, 19923982, 20860169, 1942GlyAlaPlastocyanin-like 6112986071951LeuPhePlastocyanin-like 687599051960ArgGlnPlastocyanin-like 61356412, 7579394 1961TrpArgPlastocyanin-like 620829681, 20510102, 19923982, 20860169, 1963LeuProPlastocyanin-like 6112986071966MetValPlastocyanin-like 6158109151971AsnThrPlastocyanin-like 686447281973HisLeuPlastocyanin-like 6105548311985ArgGlnPlastocyanin-like 698863181992MetIlePlastocyanin-like 6203317611994LeuProPlastocyanin-like 6168058741997LeuPhePlastocyanin-like 6185408922004ThrArgPlastocyanin-like 6114426432007MetIlePlastocyanin-like 698863182016ArgTrpPlastocyanin-like 61924291, 8644728, 17550859 2022GlyAspPlastocyanin-like 698863182030SerAsnPlastocyanin-like 698863182036TyrCysPlastocyanin-like 6112986072038AsnSerPlastocyanin-like 698863182045GlyGlnF5/8 type C 1115549352045GlyValF5/8 type C 1114108382056IleAsnF5/8 type C 1118577442058AlaProF5/8 type C 1108001712067ProLeuF5/8 type C 111410838, 15810915 2082SerAsnF5/8 type C 1118577442087ThrAsnF5/8 type C 196034402093AspTyrF5/8 type C 1114426432101HisAspF5/8 type C 1181848652106GlnArgF5/8 type C 193418622106GlnGluF5/8 type C 1109109132106GlnProF5/8 type C 1181848652107GlySerF5/8 type C 194521042109ArgCysF5/8 type C 1109109132120PheLeuF5/8 type C 119242912135ArgProF5/8 type C 131221812138SerTyrF5/8 type C 119242912143MetValF5/8 type C 1181848652146PheSerF5/8 type C 120829681, 20510102, 19923982, 20860169, 2148AsnMetF5/8 type C 1117488502148AsnSerF5/8 type C 197924052162ProLeuF5/8 type C 1158109152169ArgCysF5/8 type C 1109109132169ArgHisF5/8 type C 11908096, 1924291 2172ProArgF5/8 type C 1114108382172ProLeuF5/8 type C 1181848652178ArgCysF5/8 type C 120829681, 20510102, 19923982, 20860169, 2182ArgCysF5/8 type C 1109109132182ArgHisF5/8 type C 198299082182ArgProF5/8 type C 1115549352183MetArgF5/8 type C 1109109132183MetValF5/8 type C 175793942185LeuSerF5/8 type C 1114108382186MetLysF5/8 type C 1203317612192SerIle 109109132193CysGlyF5/8 type C 2121996862204IleThrF5/8 type C 294521042209IleAsnF5/8 type C 297924052220AlaProF5/8 type C 2109109132228ArgGlnF5/8 type C 220829681, 20510102, 19923982, 20860169, 2242ValMetF5/8 type C 219242912247GluAspF5/8 type C 2195489042248TrpCysF5/8 type C 295691892248TrpSerF5/8 type C 2126143692251ValAlaF5/8 type C 210910913, 15682412 2257MetValF5/8 type C 295691802264ThrAlaF5/8 type C 293261862279PheCysF5/8 type C 2114108382281IleThrF5/8 type C 275793942286AspGlyF5/8 type C 2181848652304GlyValF5/8 type C 293261862307AspAlaF5/8 type C 211298607, 11554935 2311ProSerF5/8 type C 2194045202316LeuProF5/8 type C 2175508592319ProLeuF5/8 type C 21924291, 9829908 2319ProSerF5/8 type C 219088172320LeuSerF5/8 type C 2175508592323ArgCysF5/8 type C 220829681, 20510102, 19923982, 20860169, 2323ArgGlyF5/8 type C 2109109132323ArgLeuF5/8 type C 2115549352326ArgGlnF5/8 type C 23012775, 2105106 2326ArgLeuF5/8 type C 224952452326ArgProF5/8 type C 2114108382330GlnProF5/8 type C 211857744, 12203998 2332TrpArgF5/8 type C 2108001712336IlePheF5/8 type C 2181848652339ArgThrF5/8 type C 2109109132344GlyCysF5/8 type C 210612839, 12614369, 8644728 2345CysArgF5/8 type C 220028422 Mutation# Codon Exon/Intron Domain PMID Pro>Leu (278) Exon 3 18565236 Asp>Asn (403) Exon 4 18565236 Leu>Val (532) Exon 4 18565236 Asp>Gly (829) Exon 7 18565236 Pro>Leu (1247) Exon 8 18565236 Ile>Ser (1400) Exon 9 18565236 Arg>Gly (1678) Exon 11 18565236 Glu>Lys (5353) Exon 15 18565236 Asp>Gly (5576) Exon 16 18565236 Glu>Gly (5711) Exon 17 18565236 Insertion Mutation Codon Exon/Intron Domain PMID 183insA+189insA Exon 5 A 1 20193250 1966-1969insA Exon 18 A 3 20193250 21686insG 710 A 2 20193250 4382-4383insAG 1442 B 20193250 1251insC Exon 8 A 2 18184865 854_855insG Exon 7 18565236 2605_2606insC Exon 14 18565236 2939_2940insG Exon 14 18565236 3294_3295insA Exon 14 18565236 5465_5466insA Exon 16 18565236 insA 1192 Exon 14 B 8644728 insT 1855 Exon 17 A 3 8644728 InsA(A7-A8) 1966-1968 Exon 18 A 3 9886318 insACTA 2245 Exon 25 C 2 10612839 1441insA Exon 9 11410838 2739insT Exon 14 11410838 insTCAAGATA Exon 4 11554935 1269-1271insA 12203998 1439-41insA 12614369 1934insTA 12614369 2245insACTA 12614369 3270-75insA 15810915 3637_3638insA 1191-4 16805874 1443insTG Exon 9 11410838 insTTCCATTCAA 38 11410838 203-204insGA 48-49 11410838 358-359delGinsTT 103 11410838 514insTCAAGATA Exon 4 11554935 3500insA Exon 14 B 17550859 5592insA Exon 17 A 3 17550859 435insTTT Exon 4 A 1 17550859 3072_3073insT 21462120 4880_4881insA 21462120 Deletion Mutation Codon Exon/Intron Domain PMID 4382-4383delAC Exon 14 B 20193250 209–212delTTGT Exon 2 A 1 20193250 948–951deAACA Exon 7 A 1 20193250 4825delA B 20193250 2186delG Exon 14 A 2 20193250 3637p.l delA Exon 14 B 20193250 4546-4548delA Exon 14 B 20193250 6969–6978delCTACCTTCG Exon 14 B 20193250 1682delA Exon 11 A 2 18184865 2766delC Exon 14 B 18184865 3093delAAGA Exon 14 B 18184865 3557delT Exon 14 B 18184865 5508-5521del Exon 16 A 3 18184865 6872delCT 19302446 1783-1790del Exon 12 18565236 2609-2610delCT Exon 14 18565236 3629delA Exon 14 18565236 4197delC Exon 14 18565236 4372delA Exon 14 18565236 4619delT Exon 14 18565236 4856delC Exon 14 18565236 5069-5073del Exon 14 18565236 6794-6795delAG Exon 25 18565236 delGA 360 2105906 delAAT-AAG 2107542 3-bp deletion (delta Phe652) 8449505 deletion of exon 17 Exon 17 7579394 delAG 1049 Exon 14 7579394 5697delC 7759074 deletion of exon 1 A 1 8644728 deletion of exon 3 A 1 8644728 deletion of exon 6 A 1 8644728 deletion of exon 6+7 A 1 8644728 deletion of exon 7-9 A 1 8644728 deletion of exon 15-21 A 2-C 2 8644728 deletion of parts of exon 26 C 2 8644728 delTTTG 51 Exon 8 A 1 8644728 delCAG 283 Exon 7 A 1 8644728 delTTTG 381-82 Exon 8 A 1 8644728 delAGTT 628-29 Exon 13 A 2 8644728 delGAACA 775-76 Exon 14 B 8644728 delACAC 1187 Exon 14 B 8644728 delA 1192 Exon 18 B 8644728 delA 1968 Exon 18 A 3 8644728 delG 1998 Exon 24 A 3 8644728 delG 2214 Exon 24 C 2 8644728 delAAATC 2285-2287 Exon 26 C 2 8644728 delTTGT 50-51 Exon 2 A 1 9886318 delT(GTT-GT) 101 Exon 3 A 1 9886318 delA(AAG-AG) 768 Exon 14-5' B 9886318 1780delTC 9452104 delTACA 1215 9792405 202-207delACTCTG Exon 2 11410838 209-212delTTGT Exon 2 11410838 1750delC Exon 11 11410838 1941-1944delAGTT Exon 13 11410838 3637delA Exon 14 20301226, 19937244, 20331761 4264+4265delTA Exon 14 11410838 5961delA Exon 18 11410838 686+6877delCT Exon 25 11410838 one large deletion greater than 2.8 kb involving Exon 14 11554935 delT Exon 25 11554935 1441delT 12203998 1145delT 12614369 1187-8delACAC 12614369 1191-1194delA 12614369 1458delGA 12614369 1534delA 12614369 1950-1953deltttg 15810915 4416-4425del 15810915 6735-38delA 15810915 209-212delTTGT Exon 2 A 1 17550859 6049delG Exon 19 A 3 17550859 3756delG Exon 14 B 17550859 6919-6920delGA Exon 26 C 2 17550859 5689-5690delCT Exon 17 A 3 17550859 1409delC Exon 9 A 2 17550859 2490delC Exon 14 B 17550859 4388-4391delCTTT Exon 14 B 17550859 2014-2016delTTC Exon 13 A 2 17550859 2113+1152delA 21689372 1282delA 21462120 deletion of 37,410 bp exon 1 21103668 deletion of 22,230 bp intron 25, exon 26 21103668 1538_1573del36 exon 11 20398075 4TAGAdel exon 14 20028422 205_206delCT exon2 20331761 224delA exon2 20331761 935delT exon7 20331761 2609_2610delCT exon14 20331761 2842delC exon14 20331761 2945delA exon14 20331761 3060_3063delCAAA exon14 20331761 4280_4290delTATTCCAAGAC exon14 20331761 4329dupA exon14 20331761 4379delA exon14 20331761 4379dupA exon14 20331761 5473_5478delTTTGTC exon14 20331761 5973_5976delAATG exon18 20331761 6165_6166dupGA exon20 20331761 Asn1092LysfsX26 exon 14 21297454 Nonsense Mutation* Codon Exon/Intron Domain PMID Glu464X exon 9 20028422 Trp656X exon 13 20028422 Trp247X exon 6 20331761 Gly266X exon7 20331761 Trp791X exon14 20331761 Trp1726X exon14 20331761 Gln136X Exon 4 Plastocyanin 1 9886318 Gln156X Exon 4 Plastocyanin 1 8644728 Gln175X Exon 4 Plastocyanin 1 9886318, 8644728 Tyr175X 8644728 Glu284X Plastocyanin 2 11748850 Arg446X Plastocyanin 3 16051741 Ser465X Exon 9 Plastocyanin 3 11410838 Tyr552X Exon 11 Plastocyanin 3 17550859 Arg583X Exon 12 Plastocyanin 4 8644728 Ser587X Exon 12 Plastocyanin 4 11410838 Arg602X Plastocyanin 3 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Tyr636X Exon 13 Plastocyanin 4 8644728 Tyr655X 8644728 Ser700X Plastocyanin 4 11554935 Cys788X B 19506358 Arg795X Exon 14 B 8644728, 11410838 Gln815X Exon 14 B 17550859 Ser872X Exon 14 B 8644728 Trp1048X Exon 14 B 11410838, 15810915 Trp1127X Exon 14 B 11410838 Ser1276X Exon 14 B 8644728 Ser1414X B 16051741 Gln1455X Exon 14 B 17550859 Trp1599X Exon 14 B 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Gln1705X 2105906 Arg1708X Exon 14 8644728 Arg1715X Exon 14 Plastocyanin 5 17550859 Lys1751X Exon 15 Plastocyanin 5 8644728 Gln1797X Exon 16 Plastocyanin 5 10408784 Tyr1811X Plastocyanin 5 15810915 Gly1818X Exon 16 Plastocyanin 5 11410838 Trp1854X Exon 16 Plastocyanin 5 20193250 Tyr1935X Exon 17 Plastocyanin 6 18184865 Arg1960X Plastocyanin 6 1349567 Arg1985X Plastocyanin 6 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys2040X plastocyanin 6 11554935 Gly2045X Exon 20 C 1 18184865 Gln2132X C 1 11554935 Arg2135X Exon 22 C1 20193250, 16051741 Arg2135X Exon 22 C 1 1349567, 8644728 Arg2166X Exon 23 C 1 2833855 Arg2166X Exon 23 C 1 11410838 Arg2166X Exon 23 C 1 17550859 Arg2228X Exon 24 C 2 2833855, 1349567, 8644728, 11410838 Gln2241X Exon 24 C 2 17550859 Tyr2275X Exon 25 C 2 17550859 Gln2289X Exon 25 C 2 8644728 Arg2326X Exon 26 C 2 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Ser>X (185)# Exon 2 18565236 Arg>X (5143)# Exon 14 18565236 Tyr>X (5343)# Exon 15 18565236 Gln>X (5848)# Exon 17 18565236 Polymorphism Mutation* Codon Exon/Intron Domain PMID Asp34Asp Exon 1 Plastocyanin 1 2105906 Asp75Val Exon 2 Plastocyanin 1 6438528 Trp274Cys Plastocyanin 2 17209060 Ser304Ser Exon 7 Plastocyanin 2 12195713 Ala362Ala Exon 8 17209060 Arg503His Exon 10 Plastocyanin 3 17209060 Leu622Leu Exon 12 Plastocyanin 4 2993888 Arg795Gly B 17209060 Arg1126Trp Exon 14 B 16128892 His1207His B 17209060 Asp1260Glu Exon 14 B 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Ser1288Ser Exon 14 B 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Val1307Val Exon 14 B 1924291 Lys1331Lys B 17209060 Leu1481Pro Exon 14 B 1908096 Val1489Val B 17209060 Pro1500Pro B 17209060 Thr1507Thr Exon 14 B 1908096 Ile1901Ile Exon 17 Plastocyanin 6 16128892 Tyr2214Tyr Exon 24 C 2 2993888 Met2238Val C 2 17209060 Val2242Met Exon 25 C 2 2993888 Leu2249Leu Exon 25 C 2 11554935 Splice site Mutation Codon Exon/Intron Domain PMID IVS5-3 9792405 IVS19-2 9792405 1538 -18G>A Intron 10 18388498 IVS15+1G>T 12614369 IVS-1G>A 11554935 IVS14-1G>A 12203998 4155_4195dup Exon 14 B 18184865 IVS13a-2g Intron 13 18184865 IVS15g-1c Intron 15 18184865 g-a Intron 2 (Exon 2+1) 9886318 CCA-CCC E6(I6-2) A 1 9886318 g-t Intron 12 (Exon 12+5) 9886318 g-a Intron 13 (Exon 14-1) 9886318 g-t Intron 15 (Exon 15+1) 9886318 602-632A>G IVS4 A 1 17550859 5587-93C>T 21689372 5999-277G>A 21689372 878A> G 21462120 1015A>G 21462120 6870G>T 21462120 G>T intron 2 20028422 nt5G>C intron 11 20028422 TAG>TGG intron 16 20028422 616+5G>T intron 12 20028422 389-2A>T intron3 20331761 388+5G>T intron3 20331761 670+1G>T intron5 20331761 787+5G>T intron6 20331761 6429+2delT intron22 20331761 * The positions are based on the protein sequence inclusive of the signal peptide if present. # The position numbering is according to cDNA sequence.
Home > Mutations
The mutations reported from Factor VIII are listed below:
Click on the highlighted residues for further information on mutation. MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY Missense Position* Wild type Mutant Domain PMID 22ArgThrPlastocyanin-like 11185774425TyrCysPlastocyanin-like 11185774426LeuArgPlastocyanin-like 1864472826LeuProPlastocyanin-like 11185774430GluLysPlastocyanin-like 12002842233TrpGlyPlastocyanin-like 19341862 35TyrHisPlastocyanin-like 11080017136MetArgPlastocyanin-like 11219968648ArgLysPlastocyanin-like 1864472867LysAsnPlastocyanin-like 11155493575AspGluPlastocyanin-like 1775907483ProArgPlastocyanin-like 11818486589GlyAspPlastocyanin-like 1864472892GlyAlaPlastocyanin-like 11144264792GlySerPlastocyanin-like 12002842297AlaProPlastocyanin-like 11219968698GluLysPlastocyanin-like 1988631898GluValPlastocyanin-like 12033176199ValAspPlastocyanin-like 18644728101AspGlyPlastocyanin-like 19886318101AspHisPlastocyanin-like 111410838101AspValPlastocyanin-like 18644728108LysThrPlastocyanin-like 11908096110MetValPlastocyanin-like 11908096113HisArgPlastocyanin-like 17579394117LeuArgPlastocyanin-like 18644728117LeuPhePlastocyanin-like 111554935129GluValPlastocyanin-like 19450898132GluAlaPlastocyanin-like 116042406132GluAspPlastocyanin-like 19603440133TyrCysPlastocyanin-like 19886318135AspGlyPlastocyanin-like 18644728135AspTyrPlastocyanin-like 111410838137ThrAlaPlastocyanin-like 111554935141GluLysPlastocyanin-like 111442643144AspAsnPlastocyanin-like 120331761145AspHisPlastocyanin-like 19886318159ValAlaPlastocyanin-like 19886318163AsnLysPlastocyanin-like 19886318164GlyAspPlastocyanin-like 19886318179SerProPlastocyanin-like 19886318181ValMetPlastocyanin-like 17759074, 9886318185LysThrPlastocyanin-like 11924291186AspAsnPlastocyanin-like 118184865189SerLeuPlastocyanin-like 12510835195LeuProPlastocyanin-like 118184865197ValGlyPlastocyanin-like 119404520199ArgGln 10800171202SerArg 10408784202SerAsp 7579394219AlaAspPlastocyanin-like 28644728223GluAsnPlastocyanin-like 211748850224GlyTrpPlastocyanin-like 21924291252ThrIlePlastocyanin-like 212614369252ThrLysPlastocyanin-like 217550859253ValPhePlastocyanin-like 29603440254AsnSerPlastocyanin-like 218184865255GlyValPlastocyanin-like 211298607259ArgCysPlastocyanin-like 210215414261LeuProPlastocyanin-like 218184865267CysTyrPlastocyanin-like 211554935274TrpCysPlastocyanin-like 29326186275HisLeuPlastocyanin-like 27579394278GlyArgPlastocyanin-like 28644728280GlyAspPlastocyanin-like 218184865285ValGlyPlastocyanin-like 21908096, 7579394291GluGlyPlastocyanin-like 22835904291GluLysPlastocyanin-like 21356412295PheLeuPlastocyanin-like 210800171297ValAlaPlastocyanin-like 29886318299AsnIlePlastocyanin-like 28322269301ArgCysPlastocyanin-like 27579394301ArgHisPlastocyanin-like 21908096301ArgLeuPlastocyanin-like 28644728303AlaGluPlastocyanin-like 28759905, 9886318307IleSerPlastocyanin-like 210800171308SerLeuPlastocyanin-like 28449505312PheSerPlastocyanin-like 21908096313LeuArgPlastocyanin-like 220331761314ThrAlaPlastocyanin-like 21924291314ThrIlePlastocyanin-like 29886318322LeuGluPlastocyanin-like 221361035323GlyGluPlastocyanin-like 211298607327ArgHisPlastocyanin-like 219302446327LeuProPlastocyanin-like 28644728328PheSerPlastocyanin-like 221361035331IleValPlastocyanin-like 29603440339MetThrPlastocyanin-like 211748850342TyrCysPlastocyanin-like 220331761365TyrCys 21751985389GluGly 8644728391ArgCys 2506948, 1973901391ArgHis 2498882394AlaSer 18184865409GluGlyPlastocyanin-like 311410838427LysIlePlastocyanin-like 39886318431LeuPhePlastocyanin-like 319302446, 1924291437ArgTrpPlastocyanin-like 39886318439GlyTyrPlastocyanin-like 39886318439GlyValPlastocyanin-like 39829908444LysArgPlastocyanin-like 31908096450TyrAsnPlastocyanin-like 38322269450TyrAspPlastocyanin-like 315682412454ThrIlePlastocyanin-like 39886318455PheCysPlastocyanin-like 311748850466GlyGluPlastocyanin-like 311442643470ProLeuPlastocyanin-like 39886318470ProThrPlastocyanin-like 311442643474GlyArgPlastocyanin-like 39603440474GlyValPlastocyanin-like 318184865475GluLysPlastocyanin-like 311554935477GlyValPlastocyanin-like 312203998492TyrCysPlastocyanin-like 31924291, 9326186492TyrHisPlastocyanin-like 31908096496ProArgPlastocyanin-like 318184865498GlyArgPlastocyanin-like 39326186, 9603440503ArgHisPlastocyanin-like 311442643513GlyValPlastocyanin-like 318184865529LysAsnPlastocyanin-like 320331761541ThrSerPlastocyanin-like 39886318546ArgTrpPlastocyanin-like 31924291550ArgCysPlastocyanin-like 31924291550ArgGlyPlastocyanin-like 31924291550ArgHisPlastocyanin-like 320829681, 20510102, 19923982, 20860169, 553SerProPlastocyanin-like 39886318554SerCysPlastocyanin-like 311748850556ValAspPlastocyanin-like 39792405560ArgThrPlastocyanin-like 39886318561AspGlyPlastocyanin-like 31908096561AspTyrPlastocyanin-like 310612839, 12614369569ProArgPlastocyanin-like 318184865577SerPhe 8449505578ValAla 9886318579AspAla 11554935584GlnLysPlastocyanin-like 41924291585IleThrPlastocyanin-like 417550859586MetValPlastocyanin-like 411298607602ArgGlyPlastocyanin-like 411442643603SerArgPlastocyanin-like 49886318612ArgCysPlastocyanin-like 420829681, 20510102, 19923982, 20860169, 631AsnLysPlastocyanin-like 49450898633MetIlePlastocyanin-like 49886318637AsnAspPlastocyanin-like 47579394637AsnIlePlastocyanin-like 418184865637AsnSerPlastocyanin-like 410691849639TyrCysPlastocyanin-like 49341862644LeuValPlastocyanin-like 49603440649CysSerPlastocyanin-like 420028422653ValAlaPlastocyanin-like 48449505653ValMetPlastocyanin-like 48449505659LeuProPlastocyanin-like 48644728663AlaValPlastocyanin-like 41924291683TyrAsnPlastocyanin-like 49886318683TyrCysPlastocyanin-like 411554935686ThrArgPlastocyanin-like 49326186698PheLeuPlastocyanin-like 411554935699MetValPlastocyanin-like 49603440710GlyTrpPlastocyanin-like 411554935713AsnIlePlastocyanin-like 410886198717ArgLeuPlastocyanin-like 48759905717ArgTrpPlastocyanin-like 48759905720GlyAspPlastocyanin-like 49603440720GlyThrPlastocyanin-like 47759074721MetLeuPlastocyanin-like 49886318723AlaThrPlastocyanin-like 41908096725LeuGlnPlastocyanin-like 411857744727ValPhePlastocyanin-like 49603440742TyrCys 98863181012ValLeu 86447281057GluLys 19242911260AspGlu 86447281460AsnLys 84495051639ArgHis 185408921698IleThr 98863181699TyrPhe 2105906, 1908096, 193024461701GluLys 158109151708ArgCys 2104766, 21059061708ArgHis 20829681, 20510102, 19923982, 20860169, 1714ThrSerPlastocyanin-like 5122039981715ArgGlyPlastocyanin-like 513495671720AlaValPlastocyanin-like 5181848651723GluLysPlastocyanin-like 519088171728TyrCysPlastocyanin-like 521064801762PheLeuPlastocyanin-like 5181848651777LeuProPlastocyanin-like 5122039981779GlyArgPlastocyanin-like 598863181780ProGlnPlastocyanin-like 5195489041788AspHisPlastocyanin-like 5115549351791MetThrPlastocyanin-like 598863181800ArgCysPlastocyanin-like 598299081800ArgHisPlastocyanin-like 51908096, 15682412, 193024461801ProAlaPlastocyanin-like 598863181802TyrCysPlastocyanin-like 5156824121803SerTyrPlastocyanin-like 519080961808LeuPhePlastocyanin-like 575793941810SerProPlastocyanin-like 520829681, 20510102, 19923982, 20860169, 1844ProSerPlastocyanin-like 519242911853AlaThrPlastocyanin-like 577590741856TyrSerPlastocyanin-like 5201932501865AspAsnPlastocyanin-like 586447281867HisArgPlastocyanin-like 519242911867HisProPlastocyanin-like 575793941869GlyAspPlastocyanin-like 5118577441869GlyValPlastocyanin-like 59792405, 10612839, 126143691873ProTyrPlastocyanin-like 586447281876ValLeuPlastocyanin-like 5115549351888ArgIlePlastocyanin-like 677590741894GluGlyPlastocyanin-like 694521041901IlePhePlastocyanin-like 698863181908TrpLeuPlastocyanin-like 693418621909TyrCysPlastocyanin-like 6108001711938HisArgPlastocyanin-like 6203317611941AsnAspPlastocyanin-like 62106480, 1908096 1941AsnSerPlastocyanin-like 620829681, 20510102, 19923982, 20860169, 1942GlyAlaPlastocyanin-like 6112986071951LeuPhePlastocyanin-like 687599051960ArgGlnPlastocyanin-like 61356412, 7579394 1961TrpArgPlastocyanin-like 620829681, 20510102, 19923982, 20860169, 1963LeuProPlastocyanin-like 6112986071966MetValPlastocyanin-like 6158109151971AsnThrPlastocyanin-like 686447281973HisLeuPlastocyanin-like 6105548311985ArgGlnPlastocyanin-like 698863181992MetIlePlastocyanin-like 6203317611994LeuProPlastocyanin-like 6168058741997LeuPhePlastocyanin-like 6185408922004ThrArgPlastocyanin-like 6114426432007MetIlePlastocyanin-like 698863182016ArgTrpPlastocyanin-like 61924291, 8644728, 17550859 2022GlyAspPlastocyanin-like 698863182030SerAsnPlastocyanin-like 698863182036TyrCysPlastocyanin-like 6112986072038AsnSerPlastocyanin-like 698863182045GlyGlnF5/8 type C 1115549352045GlyValF5/8 type C 1114108382056IleAsnF5/8 type C 1118577442058AlaProF5/8 type C 1108001712067ProLeuF5/8 type C 111410838, 15810915 2082SerAsnF5/8 type C 1118577442087ThrAsnF5/8 type C 196034402093AspTyrF5/8 type C 1114426432101HisAspF5/8 type C 1181848652106GlnArgF5/8 type C 193418622106GlnGluF5/8 type C 1109109132106GlnProF5/8 type C 1181848652107GlySerF5/8 type C 194521042109ArgCysF5/8 type C 1109109132120PheLeuF5/8 type C 119242912135ArgProF5/8 type C 131221812138SerTyrF5/8 type C 119242912143MetValF5/8 type C 1181848652146PheSerF5/8 type C 120829681, 20510102, 19923982, 20860169, 2148AsnMetF5/8 type C 1117488502148AsnSerF5/8 type C 197924052162ProLeuF5/8 type C 1158109152169ArgCysF5/8 type C 1109109132169ArgHisF5/8 type C 11908096, 1924291 2172ProArgF5/8 type C 1114108382172ProLeuF5/8 type C 1181848652178ArgCysF5/8 type C 120829681, 20510102, 19923982, 20860169, 2182ArgCysF5/8 type C 1109109132182ArgHisF5/8 type C 198299082182ArgProF5/8 type C 1115549352183MetArgF5/8 type C 1109109132183MetValF5/8 type C 175793942185LeuSerF5/8 type C 1114108382186MetLysF5/8 type C 1203317612192SerIle 109109132193CysGlyF5/8 type C 2121996862204IleThrF5/8 type C 294521042209IleAsnF5/8 type C 297924052220AlaProF5/8 type C 2109109132228ArgGlnF5/8 type C 220829681, 20510102, 19923982, 20860169, 2242ValMetF5/8 type C 219242912247GluAspF5/8 type C 2195489042248TrpCysF5/8 type C 295691892248TrpSerF5/8 type C 2126143692251ValAlaF5/8 type C 210910913, 15682412 2257MetValF5/8 type C 295691802264ThrAlaF5/8 type C 293261862279PheCysF5/8 type C 2114108382281IleThrF5/8 type C 275793942286AspGlyF5/8 type C 2181848652304GlyValF5/8 type C 293261862307AspAlaF5/8 type C 211298607, 11554935 2311ProSerF5/8 type C 2194045202316LeuProF5/8 type C 2175508592319ProLeuF5/8 type C 21924291, 9829908 2319ProSerF5/8 type C 219088172320LeuSerF5/8 type C 2175508592323ArgCysF5/8 type C 220829681, 20510102, 19923982, 20860169, 2323ArgGlyF5/8 type C 2109109132323ArgLeuF5/8 type C 2115549352326ArgGlnF5/8 type C 23012775, 2105106 2326ArgLeuF5/8 type C 224952452326ArgProF5/8 type C 2114108382330GlnProF5/8 type C 211857744, 12203998 2332TrpArgF5/8 type C 2108001712336IlePheF5/8 type C 2181848652339ArgThrF5/8 type C 2109109132344GlyCysF5/8 type C 210612839, 12614369, 8644728 2345CysArgF5/8 type C 220028422 Mutation# Codon Exon/Intron Domain PMID Pro>Leu (278) Exon 3 18565236 Asp>Asn (403) Exon 4 18565236 Leu>Val (532) Exon 4 18565236 Asp>Gly (829) Exon 7 18565236 Pro>Leu (1247) Exon 8 18565236 Ile>Ser (1400) Exon 9 18565236 Arg>Gly (1678) Exon 11 18565236 Glu>Lys (5353) Exon 15 18565236 Asp>Gly (5576) Exon 16 18565236 Glu>Gly (5711) Exon 17 18565236 Insertion Mutation Codon Exon/Intron Domain PMID 183insA+189insA Exon 5 A 1 20193250 1966-1969insA Exon 18 A 3 20193250 21686insG 710 A 2 20193250 4382-4383insAG 1442 B 20193250 1251insC Exon 8 A 2 18184865 854_855insG Exon 7 18565236 2605_2606insC Exon 14 18565236 2939_2940insG Exon 14 18565236 3294_3295insA Exon 14 18565236 5465_5466insA Exon 16 18565236 insA 1192 Exon 14 B 8644728 insT 1855 Exon 17 A 3 8644728 InsA(A7-A8) 1966-1968 Exon 18 A 3 9886318 insACTA 2245 Exon 25 C 2 10612839 1441insA Exon 9 11410838 2739insT Exon 14 11410838 insTCAAGATA Exon 4 11554935 1269-1271insA 12203998 1439-41insA 12614369 1934insTA 12614369 2245insACTA 12614369 3270-75insA 15810915 3637_3638insA 1191-4 16805874 1443insTG Exon 9 11410838 insTTCCATTCAA 38 11410838 203-204insGA 48-49 11410838 358-359delGinsTT 103 11410838 514insTCAAGATA Exon 4 11554935 3500insA Exon 14 B 17550859 5592insA Exon 17 A 3 17550859 435insTTT Exon 4 A 1 17550859 3072_3073insT 21462120 4880_4881insA 21462120 Deletion Mutation Codon Exon/Intron Domain PMID 4382-4383delAC Exon 14 B 20193250 209–212delTTGT Exon 2 A 1 20193250 948–951deAACA Exon 7 A 1 20193250 4825delA B 20193250 2186delG Exon 14 A 2 20193250 3637p.l delA Exon 14 B 20193250 4546-4548delA Exon 14 B 20193250 6969–6978delCTACCTTCG Exon 14 B 20193250 1682delA Exon 11 A 2 18184865 2766delC Exon 14 B 18184865 3093delAAGA Exon 14 B 18184865 3557delT Exon 14 B 18184865 5508-5521del Exon 16 A 3 18184865 6872delCT 19302446 1783-1790del Exon 12 18565236 2609-2610delCT Exon 14 18565236 3629delA Exon 14 18565236 4197delC Exon 14 18565236 4372delA Exon 14 18565236 4619delT Exon 14 18565236 4856delC Exon 14 18565236 5069-5073del Exon 14 18565236 6794-6795delAG Exon 25 18565236 delGA 360 2105906 delAAT-AAG 2107542 3-bp deletion (delta Phe652) 8449505 deletion of exon 17 Exon 17 7579394 delAG 1049 Exon 14 7579394 5697delC 7759074 deletion of exon 1 A 1 8644728 deletion of exon 3 A 1 8644728 deletion of exon 6 A 1 8644728 deletion of exon 6+7 A 1 8644728 deletion of exon 7-9 A 1 8644728 deletion of exon 15-21 A 2-C 2 8644728 deletion of parts of exon 26 C 2 8644728 delTTTG 51 Exon 8 A 1 8644728 delCAG 283 Exon 7 A 1 8644728 delTTTG 381-82 Exon 8 A 1 8644728 delAGTT 628-29 Exon 13 A 2 8644728 delGAACA 775-76 Exon 14 B 8644728 delACAC 1187 Exon 14 B 8644728 delA 1192 Exon 18 B 8644728 delA 1968 Exon 18 A 3 8644728 delG 1998 Exon 24 A 3 8644728 delG 2214 Exon 24 C 2 8644728 delAAATC 2285-2287 Exon 26 C 2 8644728 delTTGT 50-51 Exon 2 A 1 9886318 delT(GTT-GT) 101 Exon 3 A 1 9886318 delA(AAG-AG) 768 Exon 14-5' B 9886318 1780delTC 9452104 delTACA 1215 9792405 202-207delACTCTG Exon 2 11410838 209-212delTTGT Exon 2 11410838 1750delC Exon 11 11410838 1941-1944delAGTT Exon 13 11410838 3637delA Exon 14 20301226, 19937244, 20331761 4264+4265delTA Exon 14 11410838 5961delA Exon 18 11410838 686+6877delCT Exon 25 11410838 one large deletion greater than 2.8 kb involving Exon 14 11554935 delT Exon 25 11554935 1441delT 12203998 1145delT 12614369 1187-8delACAC 12614369 1191-1194delA 12614369 1458delGA 12614369 1534delA 12614369 1950-1953deltttg 15810915 4416-4425del 15810915 6735-38delA 15810915 209-212delTTGT Exon 2 A 1 17550859 6049delG Exon 19 A 3 17550859 3756delG Exon 14 B 17550859 6919-6920delGA Exon 26 C 2 17550859 5689-5690delCT Exon 17 A 3 17550859 1409delC Exon 9 A 2 17550859 2490delC Exon 14 B 17550859 4388-4391delCTTT Exon 14 B 17550859 2014-2016delTTC Exon 13 A 2 17550859 2113+1152delA 21689372 1282delA 21462120 deletion of 37,410 bp exon 1 21103668 deletion of 22,230 bp intron 25, exon 26 21103668 1538_1573del36 exon 11 20398075 4TAGAdel exon 14 20028422 205_206delCT exon2 20331761 224delA exon2 20331761 935delT exon7 20331761 2609_2610delCT exon14 20331761 2842delC exon14 20331761 2945delA exon14 20331761 3060_3063delCAAA exon14 20331761 4280_4290delTATTCCAAGAC exon14 20331761 4329dupA exon14 20331761 4379delA exon14 20331761 4379dupA exon14 20331761 5473_5478delTTTGTC exon14 20331761 5973_5976delAATG exon18 20331761 6165_6166dupGA exon20 20331761 Asn1092LysfsX26 exon 14 21297454 Nonsense Mutation* Codon Exon/Intron Domain PMID Glu464X exon 9 20028422 Trp656X exon 13 20028422 Trp247X exon 6 20331761 Gly266X exon7 20331761 Trp791X exon14 20331761 Trp1726X exon14 20331761 Gln136X Exon 4 Plastocyanin 1 9886318 Gln156X Exon 4 Plastocyanin 1 8644728 Gln175X Exon 4 Plastocyanin 1 9886318, 8644728 Tyr175X 8644728 Glu284X Plastocyanin 2 11748850 Arg446X Plastocyanin 3 16051741 Ser465X Exon 9 Plastocyanin 3 11410838 Tyr552X Exon 11 Plastocyanin 3 17550859 Arg583X Exon 12 Plastocyanin 4 8644728 Ser587X Exon 12 Plastocyanin 4 11410838 Arg602X Plastocyanin 3 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Tyr636X Exon 13 Plastocyanin 4 8644728 Tyr655X 8644728 Ser700X Plastocyanin 4 11554935 Cys788X B 19506358 Arg795X Exon 14 B 8644728, 11410838 Gln815X Exon 14 B 17550859 Ser872X Exon 14 B 8644728 Trp1048X Exon 14 B 11410838, 15810915 Trp1127X Exon 14 B 11410838 Ser1276X Exon 14 B 8644728 Ser1414X B 16051741 Gln1455X Exon 14 B 17550859 Trp1599X Exon 14 B 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Gln1705X 2105906 Arg1708X Exon 14 8644728 Arg1715X Exon 14 Plastocyanin 5 17550859 Lys1751X Exon 15 Plastocyanin 5 8644728 Gln1797X Exon 16 Plastocyanin 5 10408784 Tyr1811X Plastocyanin 5 15810915 Gly1818X Exon 16 Plastocyanin 5 11410838 Trp1854X Exon 16 Plastocyanin 5 20193250 Tyr1935X Exon 17 Plastocyanin 6 18184865 Arg1960X Plastocyanin 6 1349567 Arg1985X Plastocyanin 6 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys2040X plastocyanin 6 11554935 Gly2045X Exon 20 C 1 18184865 Gln2132X C 1 11554935 Arg2135X Exon 22 C1 20193250, 16051741 Arg2135X Exon 22 C 1 1349567, 8644728 Arg2166X Exon 23 C 1 2833855 Arg2166X Exon 23 C 1 11410838 Arg2166X Exon 23 C 1 17550859 Arg2228X Exon 24 C 2 2833855, 1349567, 8644728, 11410838 Gln2241X Exon 24 C 2 17550859 Tyr2275X Exon 25 C 2 17550859 Gln2289X Exon 25 C 2 8644728 Arg2326X Exon 26 C 2 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Ser>X (185)# Exon 2 18565236 Arg>X (5143)# Exon 14 18565236 Tyr>X (5343)# Exon 15 18565236 Gln>X (5848)# Exon 17 18565236 Polymorphism Mutation* Codon Exon/Intron Domain PMID Asp34Asp Exon 1 Plastocyanin 1 2105906 Asp75Val Exon 2 Plastocyanin 1 6438528 Trp274Cys Plastocyanin 2 17209060 Ser304Ser Exon 7 Plastocyanin 2 12195713 Ala362Ala Exon 8 17209060 Arg503His Exon 10 Plastocyanin 3 17209060 Leu622Leu Exon 12 Plastocyanin 4 2993888 Arg795Gly B 17209060 Arg1126Trp Exon 14 B 16128892 His1207His B 17209060 Asp1260Glu Exon 14 B 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Ser1288Ser Exon 14 B 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Val1307Val Exon 14 B 1924291 Lys1331Lys B 17209060 Leu1481Pro Exon 14 B 1908096 Val1489Val B 17209060 Pro1500Pro B 17209060 Thr1507Thr Exon 14 B 1908096 Ile1901Ile Exon 17 Plastocyanin 6 16128892 Tyr2214Tyr Exon 24 C 2 2993888 Met2238Val C 2 17209060 Val2242Met Exon 25 C 2 2993888 Leu2249Leu Exon 25 C 2 11554935 Splice site Mutation Codon Exon/Intron Domain PMID IVS5-3 9792405 IVS19-2 9792405 1538 -18G>A Intron 10 18388498 IVS15+1G>T 12614369 IVS-1G>A 11554935 IVS14-1G>A 12203998 4155_4195dup Exon 14 B 18184865 IVS13a-2g Intron 13 18184865 IVS15g-1c Intron 15 18184865 g-a Intron 2 (Exon 2+1) 9886318 CCA-CCC E6(I6-2) A 1 9886318 g-t Intron 12 (Exon 12+5) 9886318 g-a Intron 13 (Exon 14-1) 9886318 g-t Intron 15 (Exon 15+1) 9886318 602-632A>G IVS4 A 1 17550859 5587-93C>T 21689372 5999-277G>A 21689372 878A> G 21462120 1015A>G 21462120 6870G>T 21462120 G>T intron 2 20028422 nt5G>C intron 11 20028422 TAG>TGG intron 16 20028422 616+5G>T intron 12 20028422 389-2A>T intron3 20331761 388+5G>T intron3 20331761 670+1G>T intron5 20331761 787+5G>T intron6 20331761 6429+2delT intron22 20331761 * The positions are based on the protein sequence inclusive of the signal peptide if present. # The position numbering is according to cDNA sequence.
Click on the highlighted residues for further information on mutation.
MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLAPDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPSPGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEEIDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMIIHGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY
Missense
Insertion
Deletion
Nonsense
Polymorphism
Splice site
* The positions are based on the protein sequence inclusive of the signal peptide if present.
# The position numbering is according to cDNA sequence.
©Biomedical Informatics Centre, NIRRH, Mumbai