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The mutations reported from Factor VII are listed below:

Click on the highlighted residues for further information on mutation.


MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRR
ANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGS
CKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSL
LADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGG
TLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTN
HDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVL
NVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTG
IVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP

Missense

Position* Wild type Mutant Domain PMID
64PheLeuGla10862079, 11092214, 11139238
70ProGlnGla11517221
73LeuGlnGla11313743
75ArgGlyGla9732992
76GluLysGla11313743
79GluGlnGla11129332
82CysArgGla19751712, 17849063, 15456489
83SerProGla10959697
85GluLysGla12472587
86GluGlnGla12472587
88ArgGlyGla11313743
89GluLysGla15667541
92LysGluGla11517221
101TrpCysGla12015065
112SerAlaEGF-like 1; calcium-bindi18000603
117AsnAspEGF-like 1; calcium-bindi9414278
117AsnIleEGF-like 1; calcium-bindi11313743
120SerAlaEGF-like 1; calcium-bindi18000603
120SerProEGF-like 1; calcium-bindi11092214
121CysPheEGF-like 1; calcium-bindi11129332
125LeuProEGF-like 1; calcium-bindi11129332
128TyrCysEGF-like 1; calcium-bindi11092214
139ArgGlnEGF-like 1; calcium-bindi9732992, 7607584, 8242057
139ArgTrpEGF-like 1; calcium-bindi8242057
151CysArgEGF-like 218282149
151CysSerEGF-like 211129332
154GluLysEGF-like 211139238
156GlySerEGF-like 211313743
157GlyCysEGF-like 29949166, 8244334
157GlySerEGF-like 210937801, 11129332
157GlyValEGF-like 211129332
160GlnArgEGF-like 212935978, 10627125, 9949166, 8242057
162CysTyrEGF-like 211313743
163SerGlyEGF-like 217692102
170ArgCysEGF-like 215339682, 10937801
170ArgSerEGF-like 215339682
177GlyArgEGF-like 219751712, 15198740
183AspTyrEGF-like 215339682
194ProThr 9452082
195CysArg 12632035, 10959697, 11313743
197LysGlu 8242057
198IleThr 19751712
200IleSer 12695753
205AsnGln 18000603
212ArgGln 19751712, 8204879
212ArgLeu 14633462
214ValAlaPeptidase S112358603
214ValGlyPeptidase S112358603
216GlyAspPeptidase S111092214
218ValAspPeptidase S112444984
222GlyArgPeptidase S115194538
238CysTyrPeptidase S18364544
239GlyArgPeptidase S111313743
240GlyArgPeptidase S111313743, 19432927
241ThrAsnPeptidase S116620721
250SerPhePeptidase S121372693
251AlaGluPeptidase S117606459
251AlaProPeptidase S119751712
251AlaValPeptidase S117606459, 15907525, 11313743
254CysTyrPeptidase S111139238
264LeuProPeptidase S114691565
266AlaThrPeptidase S111092214, 14691565
283ArgTrpPeptidase S18844208
284ArgGlnPeptidase S115907525, 12676783
299ThrAlaPeptidase S115907525
299ThrProPeptidase S115907525
302AspAsnPeptidase S111129332
302AspHisPeptidase S111129332
304AlaGlyPeptidase S110554827
304AlaPhePeptidase S110554827
304AlaThrPeptidase S115456489
304AlaValPeptidase S117287630, 10554827, 9452082, 8883260
307ArgCysPeptidase S110959697, 11092214
307ArgHisPeptidase S17974346
312ValMetPeptidase S111092214
314LeuValPeptidase S121206266
320ProLeuPeptidase S121441234
323LeuArgPeptidase S119751712
325GluLysPeptidase S111092214, 8844208
332ThrMetPeptidase S111129332
337ArgCysPeptidase S110959697
337ArgHisPeptidase S115456489
341ValPhePeptidase S111092214
342SerArgPeptidase S110959697
343GlyAlaPeptidase S111830508
343GlySerPeptidase S120829681, 20510102, 19923982, 20860169,
344TrpArgPeptidase S119751712
345GlySerPeptidase S111139238
350ArgAlaPeptidase S17918377
350ArgHisPeptidase S114629487
350ArgLysPeptidase S114629487
354AlaValPeptidase S120829681, 20510102, 19923982, 20860169,
356GluValPeptidase S112444984
358MetGlnPeptidase S115566361
358MetIlePeptidase S112935978, 11092214, 8844208, 15907525, 11139238
358MetValPeptidase S111139238
360LeuProPeptidase S111139238, 15456489
363ProArgPeptidase S111139238
363ProThrPeptidase S115566361, 11260055, 10959697
364ArgGlnPeptidase S120829681, 20510102, 19923982, 20860169,
364ArgGlyPeptidase S116363229
364ArgTrpPeptidase S114629487, 8125953
365LeuValPeptidase S115566361, 11389142
366MetAspPeptidase S115566361
366MetValPeptidase S116620721
370CysPhePeptidase S119751712, 15970722, 15456489, 12695753, 8043443
375ArgLysPeptidase S115590402
375ArgTrpPeptidase S115590402
382AsnGlnPeptidase S118000603
384ThrMetPeptidase S119751712, 15194538
387MetIlePeptidase S111313743
388PheSerPeptidase S111313743, 8940045
389CysArgPeptidase S19282796, 11091194
389CysGlnPeptidase S110877552
389CysGlyPeptidase S120829681, 20510102, 19923982, 20860169,
391GlyAlaPeptidase S111830508
391GlyAspPeptidase S112695753, 8845469, 15735789
391GlyPhePeptidase S115735789
391GlySerPeptidase S115735789, 14688004, 11313743
391GlyTrpPeptidase S115735789
398AspGluPeptidase S119751712
399SerCysPeptidase S114717781, 12181027
399SerPhePeptidase S115970722
402GlyArgPeptidase S18043443
402GlyGluPeptidase S18844208
403AspAsnPeptidase S111313743
403AspHisPeptidase S111092214
404SerAlaPeptidase S112358603
408HisArgPeptidase S120829681, 20510102, 19923982, 20860169,
408HisGlnPeptidase S120829681, 20510102, 19923982, 20860169,
413ArgGlnPeptidase S112015065, 8043443
413ArgProPeptidase S117849063
414GlyArgPeptidase S114717781
414GlyAspPeptidase S114717781
414GlyCysPeptidase S114717781
414GlyPhePeptidase S114717781
414GlySerPeptidase S114717781
419ThrMetPeptidase S119141116, 9308740, 8652821, 12697124
422ValPhePeptidase S114521598
423SerIlePeptidase S110959697
424TrpCysPeptidase S117606459, 10959697
424TrpPhePeptidase S110959697
435GlyGluPeptidase S114521598
439ArgGlyPeptidase S111313743
445GluLysPeptidase S115741795

Insertion

Mutation Codon Exon/Intron Domain PMID
 11293insAA        12935978
 7773-7781ins    IVS4    11918550
 323insCCTATATCCT  329  Exon 8    11260055
 10553-10554ins    Exon 8  Catalytic  11260055

Deletion

Mutation Codon Exon/Intron Domain PMID
 3892-3894del    Exon 2  Gla  
 9729-9732del    Intron 7  Catalytic  9716592
 10554-10568del    Exon 8  Catalytic  10862079
 10586-10602del    Exon 8  Catalytic  7981691
 10696del    Exon 8  Catalytic  1350022
 10785del    Exon 8  Catalytic  1350022
 Phe24del      Gla  15456489
 10896-10913delATGTTCTGTGCCGGCTAC    Exon 8  SP  15198740
 7774-7780del    IVS 4    11918550
 delTC    Exon 1A    11260055
 27-28delCT  52-53  Exon 1a    11057862
 10585del17bp        10959697
 11125-11128delC    Exon 8  Catalytic  7919338, 11092214, 10862079, 15456489
 11487-11489delCCC    Exon 8    14633462
 del CT (5078 - 5079)    exon1    21535950

Nonsense

Mutation* Codon Exon/Intron Domain PMID
 Gln426X      Catalytic domain  21535950
 Ser112X      EGF1  12632035
 Cys115X    Exon 4  EGF1  20301226, 19937244, 20331761, 20664902, 21429375, 20231421,
 Cys121X      EGF1  11091194
 Cys132X      EGF1  15634284
 Gln211X    Exon 8    11529858
 Arg212X    Exon 6    15198740, 11092214
 Gln227X    Exon 8  Peptidase S1  17606459
 Lys376X      Peptidase S1  20301226, 19937244, 20331761, 20664902, 21429375, 20231421,
 Gln382X    Exon 8  Peptidase S1  17606459
 Trp424X      Peptidase S1  16706976
 Arg462X        19822353, 19141116
 Arg1978X        10980546

Polymorphism

Mutation* Codon Exon/Intron Domain PMID
 G73A    Intron 1a    10691850
 His115His      EGF1  14691565
 115His    Exon 5  EGF1  8364544, 8244334
 Arg131Trp      EGF1  16792912
 330Ala      Peptidase S1  8844208
 333Ser    Exon 8  Peptidase S1  8364544, 8244334
 Arg413Gln    Exon 8  Peptidase S1  20301226, 19937244, 20331761, 20664902, 21429375, 20231421,

Splice site

Mutation Codon Exon/Intron Domain PMID
 IVS2+1    Intron 2    10862079, 10959697
 IVS2+5    Intron 2    10862079
 IVS3-1    Intron 3    10862079
 IVS4+1    Intron 4    10862079, 12472587
 IVS4+G>A        16651241
 226-2 A>G    Intron 2    15970722
 IVS1a+5g>a    Intron 1a    15968391
 9726+5G>A        12881304, 9716592
 IVS7+2T>G        12676783
 T9726+2>G    IVS 7    11918550
 IVS46071G>A        11529858
 IVS2+1G>C        11092214
 IVS4+1G>A        11092214
 IVS1a+5    Intron 1a    10959697
 IVS6+1    Intron 6    10959697
 IVS7+7    Intron 7    10959697, 11092214
 9007+1G>T    IVS6    11260055
 IVS7+5    Intron 7    12358603
 IVS6-1G?A    intron6    21535950

* The positions are based on the protein sequence inclusive of the signal peptide if present.


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