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The mutations reported from Factor VIII are listed below:

Click on the highlighted residues for further information on mutation.


MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFN
TSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAV
GVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSH
VDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRD
AASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNH
RQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNE
EAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA
PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTL
LIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGP
TKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDE
NRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILS
IGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRG
MTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTI
PENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS
PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSST
SNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEE
NNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTN
KTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRL
NHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSG
QGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDN
LHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD
GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNT
SQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKE
KGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASY
RKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLP
KPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRP
GKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSL
NACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE
IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNR
AQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASR
PYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDV
DLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRA
PCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGH
VFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKC
QTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII
HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFN
PPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFA
TWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFL
ISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRM
EVLGCEAQDLY

Missense

Position* Wild type Mutant Domain PMID
22ArgThrPlastocyanin-like 111857744
25TyrCysPlastocyanin-like 111857744
26LeuArgPlastocyanin-like 18644728
26LeuProPlastocyanin-like 111857744
30GluLysPlastocyanin-like 120028422
33TrpGlyPlastocyanin-like 19341862
35TyrHisPlastocyanin-like 110800171
36MetArgPlastocyanin-like 112199686
48ArgLysPlastocyanin-like 18644728
67LysAsnPlastocyanin-like 111554935
75AspGluPlastocyanin-like 17759074
83ProArgPlastocyanin-like 118184865
89GlyAspPlastocyanin-like 18644728
92GlyAlaPlastocyanin-like 111442647
92GlySerPlastocyanin-like 120028422
97AlaProPlastocyanin-like 112199686
98GluLysPlastocyanin-like 19886318
98GluValPlastocyanin-like 120331761
99ValAspPlastocyanin-like 18644728
101AspGlyPlastocyanin-like 19886318
101AspHisPlastocyanin-like 111410838
101AspValPlastocyanin-like 18644728
108LysThrPlastocyanin-like 11908096
110MetValPlastocyanin-like 11908096
113HisArgPlastocyanin-like 17579394
117LeuArgPlastocyanin-like 18644728
117LeuPhePlastocyanin-like 111554935
129GluValPlastocyanin-like 19450898
132GluAlaPlastocyanin-like 116042406
132GluAspPlastocyanin-like 19603440
133TyrCysPlastocyanin-like 19886318
135AspGlyPlastocyanin-like 18644728
135AspTyrPlastocyanin-like 111410838
137ThrAlaPlastocyanin-like 111554935
141GluLysPlastocyanin-like 111442643
144AspAsnPlastocyanin-like 120331761
145AspHisPlastocyanin-like 19886318
159ValAlaPlastocyanin-like 19886318
163AsnLysPlastocyanin-like 19886318
164GlyAspPlastocyanin-like 19886318
179SerProPlastocyanin-like 19886318
181ValMetPlastocyanin-like 17759074, 9886318
185LysThrPlastocyanin-like 11924291
186AspAsnPlastocyanin-like 118184865
189SerLeuPlastocyanin-like 12510835
195LeuProPlastocyanin-like 118184865
197ValGlyPlastocyanin-like 119404520
199ArgGln 10800171
202SerArg 10408784
202SerAsp 7579394
219AlaAspPlastocyanin-like 28644728
223GluAsnPlastocyanin-like 211748850
224GlyTrpPlastocyanin-like 21924291
252ThrIlePlastocyanin-like 212614369
252ThrLysPlastocyanin-like 217550859
253ValPhePlastocyanin-like 29603440
254AsnSerPlastocyanin-like 218184865
255GlyValPlastocyanin-like 211298607
259ArgCysPlastocyanin-like 210215414
261LeuProPlastocyanin-like 218184865
267CysTyrPlastocyanin-like 211554935
274TrpCysPlastocyanin-like 29326186
275HisLeuPlastocyanin-like 27579394
278GlyArgPlastocyanin-like 28644728
280GlyAspPlastocyanin-like 218184865
285ValGlyPlastocyanin-like 21908096, 7579394
291GluGlyPlastocyanin-like 22835904
291GluLysPlastocyanin-like 21356412
295PheLeuPlastocyanin-like 210800171
297ValAlaPlastocyanin-like 29886318
299AsnIlePlastocyanin-like 28322269
301ArgCysPlastocyanin-like 27579394
301ArgHisPlastocyanin-like 21908096
301ArgLeuPlastocyanin-like 28644728
303AlaGluPlastocyanin-like 28759905, 9886318
307IleSerPlastocyanin-like 210800171
308SerLeuPlastocyanin-like 28449505
312PheSerPlastocyanin-like 21908096
313LeuArgPlastocyanin-like 220331761
314ThrAlaPlastocyanin-like 21924291
314ThrIlePlastocyanin-like 29886318
322LeuGluPlastocyanin-like 221361035
323GlyGluPlastocyanin-like 211298607
327ArgHisPlastocyanin-like 219302446
327LeuProPlastocyanin-like 28644728
328PheSerPlastocyanin-like 221361035
331IleValPlastocyanin-like 29603440
339MetThrPlastocyanin-like 211748850
342TyrCysPlastocyanin-like 220331761
365TyrCys 21751985
389GluGly 8644728
391ArgCys 2506948, 1973901
391ArgHis 2498882
394AlaSer 18184865
409GluGlyPlastocyanin-like 311410838
427LysIlePlastocyanin-like 39886318
431LeuPhePlastocyanin-like 319302446, 1924291
437ArgTrpPlastocyanin-like 39886318
439GlyTyrPlastocyanin-like 39886318
439GlyValPlastocyanin-like 39829908
444LysArgPlastocyanin-like 31908096
450TyrAsnPlastocyanin-like 38322269
450TyrAspPlastocyanin-like 315682412
454ThrIlePlastocyanin-like 39886318
455PheCysPlastocyanin-like 311748850
466GlyGluPlastocyanin-like 311442643
470ProLeuPlastocyanin-like 39886318
470ProThrPlastocyanin-like 311442643
474GlyArgPlastocyanin-like 39603440
474GlyValPlastocyanin-like 318184865
475GluLysPlastocyanin-like 311554935
477GlyValPlastocyanin-like 312203998
492TyrCysPlastocyanin-like 31924291, 9326186
492TyrHisPlastocyanin-like 31908096
496ProArgPlastocyanin-like 318184865
498GlyArgPlastocyanin-like 39326186, 9603440
503ArgHisPlastocyanin-like 311442643
513GlyValPlastocyanin-like 318184865
529LysAsnPlastocyanin-like 320331761
541ThrSerPlastocyanin-like 39886318
546ArgTrpPlastocyanin-like 31924291
550ArgCysPlastocyanin-like 31924291
550ArgGlyPlastocyanin-like 31924291
550ArgHisPlastocyanin-like 320829681, 20510102, 19923982, 20860169,
553SerProPlastocyanin-like 39886318
554SerCysPlastocyanin-like 311748850
556ValAspPlastocyanin-like 39792405
560ArgThrPlastocyanin-like 39886318
561AspGlyPlastocyanin-like 31908096
561AspTyrPlastocyanin-like 310612839, 12614369
569ProArgPlastocyanin-like 318184865
577SerPhe 8449505
578ValAla 9886318
579AspAla 11554935
584GlnLysPlastocyanin-like 41924291
585IleThrPlastocyanin-like 417550859
586MetValPlastocyanin-like 411298607
602ArgGlyPlastocyanin-like 411442643
603SerArgPlastocyanin-like 49886318
612ArgCysPlastocyanin-like 420829681, 20510102, 19923982, 20860169,
631AsnLysPlastocyanin-like 49450898
633MetIlePlastocyanin-like 49886318
637AsnAspPlastocyanin-like 47579394
637AsnIlePlastocyanin-like 418184865
637AsnSerPlastocyanin-like 410691849
639TyrCysPlastocyanin-like 49341862
644LeuValPlastocyanin-like 49603440
649CysSerPlastocyanin-like 420028422
653ValAlaPlastocyanin-like 48449505
653ValMetPlastocyanin-like 48449505
659LeuProPlastocyanin-like 48644728
663AlaValPlastocyanin-like 41924291
683TyrAsnPlastocyanin-like 49886318
683TyrCysPlastocyanin-like 411554935
686ThrArgPlastocyanin-like 49326186
698PheLeuPlastocyanin-like 411554935
699MetValPlastocyanin-like 49603440
710GlyTrpPlastocyanin-like 411554935
713AsnIlePlastocyanin-like 410886198
717ArgLeuPlastocyanin-like 48759905
717ArgTrpPlastocyanin-like 48759905
720GlyAspPlastocyanin-like 49603440
720GlyThrPlastocyanin-like 47759074
721MetLeuPlastocyanin-like 49886318
723AlaThrPlastocyanin-like 41908096
725LeuGlnPlastocyanin-like 411857744
727ValPhePlastocyanin-like 49603440
742TyrCys 9886318
1012ValLeu 8644728
1057GluLys 1924291
1260AspGlu 8644728
1460AsnLys 8449505
1639ArgHis 18540892
1698IleThr 9886318
1699TyrPhe 2105906, 1908096, 19302446
1701GluLys 15810915
1708ArgCys 2104766, 2105906
1708ArgHis 20829681, 20510102, 19923982, 20860169,
1714ThrSerPlastocyanin-like 512203998
1715ArgGlyPlastocyanin-like 51349567
1720AlaValPlastocyanin-like 518184865
1723GluLysPlastocyanin-like 51908817
1728TyrCysPlastocyanin-like 52106480
1762PheLeuPlastocyanin-like 518184865
1777LeuProPlastocyanin-like 512203998
1779GlyArgPlastocyanin-like 59886318
1780ProGlnPlastocyanin-like 519548904
1788AspHisPlastocyanin-like 511554935
1791MetThrPlastocyanin-like 59886318
1800ArgCysPlastocyanin-like 59829908
1800ArgHisPlastocyanin-like 51908096, 15682412, 19302446
1801ProAlaPlastocyanin-like 59886318
1802TyrCysPlastocyanin-like 515682412
1803SerTyrPlastocyanin-like 51908096
1808LeuPhePlastocyanin-like 57579394
1810SerProPlastocyanin-like 520829681, 20510102, 19923982, 20860169,
1844ProSerPlastocyanin-like 51924291
1853AlaThrPlastocyanin-like 57759074
1856TyrSerPlastocyanin-like 520193250
1865AspAsnPlastocyanin-like 58644728
1867HisArgPlastocyanin-like 51924291
1867HisProPlastocyanin-like 57579394
1869GlyAspPlastocyanin-like 511857744
1869GlyValPlastocyanin-like 59792405, 10612839, 12614369
1873ProTyrPlastocyanin-like 58644728
1876ValLeuPlastocyanin-like 511554935
1888ArgIlePlastocyanin-like 67759074
1894GluGlyPlastocyanin-like 69452104
1901IlePhePlastocyanin-like 69886318
1908TrpLeuPlastocyanin-like 69341862
1909TyrCysPlastocyanin-like 610800171
1938HisArgPlastocyanin-like 620331761
1941AsnAspPlastocyanin-like 62106480, 1908096
1941AsnSerPlastocyanin-like 620829681, 20510102, 19923982, 20860169,
1942GlyAlaPlastocyanin-like 611298607
1951LeuPhePlastocyanin-like 68759905
1960ArgGlnPlastocyanin-like 61356412, 7579394
1961TrpArgPlastocyanin-like 620829681, 20510102, 19923982, 20860169,
1963LeuProPlastocyanin-like 611298607
1966MetValPlastocyanin-like 615810915
1971AsnThrPlastocyanin-like 68644728
1973HisLeuPlastocyanin-like 610554831
1985ArgGlnPlastocyanin-like 69886318
1992MetIlePlastocyanin-like 620331761
1994LeuProPlastocyanin-like 616805874
1997LeuPhePlastocyanin-like 618540892
2004ThrArgPlastocyanin-like 611442643
2007MetIlePlastocyanin-like 69886318
2016ArgTrpPlastocyanin-like 61924291, 8644728, 17550859
2022GlyAspPlastocyanin-like 69886318
2030SerAsnPlastocyanin-like 69886318
2036TyrCysPlastocyanin-like 611298607
2038AsnSerPlastocyanin-like 69886318
2045GlyGlnF5/8 type C 111554935
2045GlyValF5/8 type C 111410838
2056IleAsnF5/8 type C 111857744
2058AlaProF5/8 type C 110800171
2067ProLeuF5/8 type C 111410838, 15810915
2082SerAsnF5/8 type C 111857744
2087ThrAsnF5/8 type C 19603440
2093AspTyrF5/8 type C 111442643
2101HisAspF5/8 type C 118184865
2106GlnArgF5/8 type C 19341862
2106GlnGluF5/8 type C 110910913
2106GlnProF5/8 type C 118184865
2107GlySerF5/8 type C 19452104
2109ArgCysF5/8 type C 110910913
2120PheLeuF5/8 type C 11924291
2135ArgProF5/8 type C 13122181
2138SerTyrF5/8 type C 11924291
2143MetValF5/8 type C 118184865
2146PheSerF5/8 type C 120829681, 20510102, 19923982, 20860169,
2148AsnMetF5/8 type C 111748850
2148AsnSerF5/8 type C 19792405
2162ProLeuF5/8 type C 115810915
2169ArgCysF5/8 type C 110910913
2169ArgHisF5/8 type C 11908096, 1924291
2172ProArgF5/8 type C 111410838
2172ProLeuF5/8 type C 118184865
2178ArgCysF5/8 type C 120829681, 20510102, 19923982, 20860169,
2182ArgCysF5/8 type C 110910913
2182ArgHisF5/8 type C 19829908
2182ArgProF5/8 type C 111554935
2183MetArgF5/8 type C 110910913
2183MetValF5/8 type C 17579394
2185LeuSerF5/8 type C 111410838
2186MetLysF5/8 type C 120331761
2192SerIle 10910913
2193CysGlyF5/8 type C 212199686
2204IleThrF5/8 type C 29452104
2209IleAsnF5/8 type C 29792405
2220AlaProF5/8 type C 210910913
2228ArgGlnF5/8 type C 220829681, 20510102, 19923982, 20860169,
2242ValMetF5/8 type C 21924291
2247GluAspF5/8 type C 219548904
2248TrpCysF5/8 type C 29569189
2248TrpSerF5/8 type C 212614369
2251ValAlaF5/8 type C 210910913, 15682412
2257MetValF5/8 type C 29569180
2264ThrAlaF5/8 type C 29326186
2279PheCysF5/8 type C 211410838
2281IleThrF5/8 type C 27579394
2286AspGlyF5/8 type C 218184865
2304GlyValF5/8 type C 29326186
2307AspAlaF5/8 type C 211298607, 11554935
2311ProSerF5/8 type C 219404520
2316LeuProF5/8 type C 217550859
2319ProLeuF5/8 type C 21924291, 9829908
2319ProSerF5/8 type C 21908817
2320LeuSerF5/8 type C 217550859
2323ArgCysF5/8 type C 220829681, 20510102, 19923982, 20860169,
2323ArgGlyF5/8 type C 210910913
2323ArgLeuF5/8 type C 211554935
2326ArgGlnF5/8 type C 23012775, 2105106
2326ArgLeuF5/8 type C 22495245
2326ArgProF5/8 type C 211410838
2330GlnProF5/8 type C 211857744, 12203998
2332TrpArgF5/8 type C 210800171
2336IlePheF5/8 type C 218184865
2339ArgThrF5/8 type C 210910913
2344GlyCysF5/8 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
 209212delTTGT    Exon 2  A 1  20193250
 948951deAACA    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
 69696978delCTACCTTCG    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.


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