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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
43ArgGln 21118338
43ArgTrp 21118338
48AsnAspGla2198809
48AsnTyrGla10739381
49SerProGla10094553
51LysAlaGla20829681, 20510102, 19923982, 20860169,
51LysArgGla1400370
52LeuSerGla12588353
53GluGlyGla15921378
53GluLysGla10739381
53GluValGla10739381
54GluAspGla16270648
55PheCysGla10094553
55PheIleGla15921378
56ValThrGla12360981
58GlyAlaGla1680373
58GlyArgGla8632006
58GlyGluGla8632006
58GlyValGla16270648
63GluLysGla15613048
63GluValGla16270648
64CysArgGla7487929
64CysTyrGla15590401
67GluAspGla8756687
67GluLysGla1871712
69CysArgGla1796396
69CysTyrGla7487929
71PheCysGla15921378
72GluGlnGla10874302
72GluGlyGla10874302
73GluAlaGla10595634
73GluAspGla10595634
73GluLysGla2472424
73GluValGla2339358
75ArgGlnGla1972560
75ArgProGla10647899
76GluGlnGla15921378
79GluAlaGla10874302
79GluAspGla2472424
79GluLysGla15569175
84ThrArgGla12604421, 11025603
84ThrIleGla7974379
85ThrIleGla2713493
87PheCysGla15921378
87PheValGla10595634
91TyrCysGla11013449
92ValAlaGla10874302
92ValGluGla9468287
93AspAsnEGF-like 1; calcium-bindi11013449
93AspGlyEGF-like 1; calcium-bindi2105717
93AspLysEGF-like 1; calcium-bindi3262057
93AspValEGF-like 1; calcium-bindi7974379
94GlyArgEGF-like 1; calcium-bindi20829681, 20510102, 19923982, 20860169,
94GlyValEGF-like 1; calcium-bindi11057861
95AspGluEGF-like 1; calcium-bindi3262057
95AspGlyEGF-like 1; calcium-bindi10739381
95AspTyrEGF-like 1; calcium-bindi10739381
95AspValEGF-like 1; calcium-bindi10874302
96GlnGluEGF-like 1; calcium-bindi9468287
96GlnProEGF-like 1; calcium-bindi9468287, 2306516
97CysSerEGF-like 1; calcium-bindi10094553
97CysTrpEGF-like 1; calcium-bindi10595634
97CysTyrEGF-like 1; calcium-bindi10583255, 17014892
101ProAlaEGF-like 1; calcium-bindi2169923
101ProArgEGF-like 1; calcium-bindi10094553
101ProGlnEGF-like 1; calcium-bindi8434583
101ProLeuEGF-like 1; calcium-bindi12871416, 11328285
101ProSerEGF-like 1; calcium-bindi12871416, 11328285
102CysArgEGF-like 1; calcium-bindi2014182
102CysSerEGF-like 1; calcium-bindi10595634
102CysTyrEGF-like 1; calcium-bindi10874302
105GlyAspEGF-like 1; calcium-bindi10739381
105GlySerEGF-like 1; calcium-bindi7989034
105GlyValEGF-like 1; calcium-bindi1897528
106GlyArgEGF-like 1; calcium-bindi1897528
106GlyAspEGF-like 1; calcium-bindi2198809
106GlyCysEGF-like 1; calcium-bindi21118338
106GlySerEGF-like 1; calcium-bindi17308903, 18479429, 9525872, 2472424, 3262389, 1916816
108CysPheEGF-like 1; calcium-bindi15921378
108CysSerEGF-like 1; calcium-bindi10094553
108CysTrpEGF-like 1; calcium-bindi15921378
110AspAsnEGF-like 1; calcium-bindi1998585
110AspGlyEGF-like 1; calcium-bindi2169923
110AspLysEGF-like 1; calcium-bindi3262057
110AspTyrEGF-like 1; calcium-bindi10874302
112IleAsnEGF-like 1; calcium-bindi15569175
112IleSerEGF-like 1; calcium-bindi10094553
112IleThrEGF-like 1; calcium-bindi17230038
113AsnLysEGF-like 1; calcium-bindi9222764
115TyrAsnEGF-like 1; calcium-bindi10647899
115TyrCysEGF-like 1; calcium-bindi9600455
115TyrSerEGF-like 1; calcium-bindi8705874
117CysTyrEGF-like 1; calcium-bindi10595634, 15219198
123PheTyrEGF-like 1; calcium-bindi11328285
124GluAspEGF-like 1; calcium-bindi9417068, 3262057
124GluLysEGF-like 1; calcium-bindi9417068
125GlyArgEGF-like 1; calcium-bindi12604421
125GlyGluEGF-like 1; calcium-bindi10094553
125GlyValEGF-like 1; calcium-bindi12604421, 10094553
128CysSerEGF-like 1; calcium-bindi15921378
128CysTyrEGF-like 1; calcium-bindi11013449
134CysArgEGF-like 215921378
134CysPheEGF-like 210612837
134CysSerEGF-like 215921378
134CysTyrEGF-like 210612837
135AsnAlaEGF-like 215328360
136IleAlaEGF-like 215328360
137LysAlaEGF-like 215328360
138AsnAspEGF-like 215590401
138AsnHisEGF-like 215590401
138AsnSerEGF-like 210874302
139GlyAspEGF-like 217014892
139GlySerEGF-like 215921378
140ArgAlaEGF-like 215328360
140ArgAspEGF-like 29417068
140ArgSerEGF-like 29417068, 10381508
141CysArgEGF-like 215921378
141CysTrpEGF-like 217014892
141CysTyrEGF-like 2 
142GluGlyEGF-like 215613048
142GluLysEGF-like 2 
143GlnGluEGF-like 215921378
143GlnLysEGF-like 215921378
145CysArgEGF-like 22198809
145CysTyrEGF-like 215219198
150AspAlaEGF-like 215328360
151AsnAlaEGF-like 215328360
153ValAlaEGF-like 215328360
153ValMetEGF-like 215921378
155CysPheEGF-like 29600455
155CysSerEGF-like 215921378
155CysTyrEGF-like 2 
156SerProEGF-like 221118338
157CysSerEGF-like 210612837
157CysTyrEGF-like 210612837
160GlyArgEGF-like 217014892
160GlyValEGF-like 215086324
161TyrCysEGF-like 210874302
162ArgGlnEGF-like 21972560
163LeuPheEGF-like 215921378
166AsnTyrEGF-like 22743975
169SerCysEGF-like 211122099
170CysArgEGF-like 215921378
170CysPheEGF-like 212604421
170CysSerEGF-like 211013449
170CysTyrEGF-like 210647899, 15590401
177ProSer 10739381
178CysArg 10094553
178CysPhe 11328285
178CysTyr 10192459
180ArgGly 1651755
191ArgCys  
191ArgHis  
191ArgLeu 15921378
218ThrPro 15590401
226ArgGln 1972560
226ArgGlu 16270648
226ArgGly 12588353
226ArgTrp 20829681, 20510102, 19923982, 20860169,
227ValAlaPeptidase S18518277
227ValIlePeptidase S18518277
228ValAlaPeptidase S18518277
228ValGlyPeptidase S18518277
228ValLeuPeptidase S12372509
228ValPhePeptidase S12753873
230GlyArgPeptidase S115613048
236GlyAspPeptidase S112687663
236GlyValPeptidase S121301787
239ProArgPeptidase S116270648
240TrpCysPeptidase S110647899
241GlnHisPeptidase S110094553
241GlnLysPeptidase S112588353
243ValIlePeptidase S111013449
244LeuSerPeptidase S116643212
252CysSerPeptidase S11615485
252CysTyrPeptidase S18499919
253GlyArgPeptidase S17915915
253GlyGluPeptidase S17915915
253GlyValPeptidase S110874302
254GlySerPeptidase S115086324
254GlyValPeptidase S115921378
257ValIlePeptidase S11972560, 19522246
262IlePhePeptidase S115921378
262IleThrPeptidase S12198809
263ValGluPeptidase S110874302
264ThrProPeptidase S115590401
265AlaAspPeptidase S112941051
265AlaProPeptidase S115613048
267HisArgPeptidase S1 
267HisGlnPeptidase S110595634
267HisTyrPeptidase S111328285
268CysArgPeptidase S115921378
268CysGlyPeptidase S110647899
268CysTrpPeptidase S12773937
277ValPhePeptidase S115921378
279AlaThrPeptidase S11972560
280GlyArgPeptidase S115921378
280GlySerPeptidase S115921378
281GluLysPeptidase S17740454
282HisGlnPeptidase S115590401, 15357782
291GluValPeptidase S11346975
294ArgGlnPeptidase S11346975
296ValGluPeptidase S115921378
298ArgGlnPeptidase S11972560
302HisArgPeptidase S110094553, 12604421
305TyrAsnPeptidase S110874302
305TyrCysPeptidase S111013449
306AsnSerPeptidase S12773937
311LysAlaPeptidase S110858287
314HisArgPeptidase S110192459
314HisGlnPeptidase S115590401
315AspValPeptidase S111328285
316IlePhePeptidase S110094553
317AlaThrPeptidase S121118338
317AlaValPeptidase S118479429
318LeuArgPeptidase S112588353
319LeuArgPeptidase S117014892
328AsnTyrPeptidase S116643212
330TyrCysPeptidase S110647899
331ValIlePeptidase S11972560
333ProHisPeptidase S110094553
333ProThrPeptidase S111122099
335CysPhePeptidase S18499919
335CysSerPeptidase S116270648
335CysTyrPeptidase S115921378
337AlaThrPeptidase S12726481
339LysGluPeptidase S110595634
342ThrAlaPeptidase S115921378
342ThrArgPeptidase S116270648
342ThrMetPeptidase S112604421, 9100030, 1916816
344IleLeuPeptidase S112604421
347LysIlePeptidase S115921378
351GlyAspPeptidase S110094553
351GlyValPeptidase S115921378
353ValGlyPeptidase S111328285
355GlyAspPeptidase S110874302
355GlyValPeptidase S11680287
356TrpGlyPeptidase S115921378
357GlyArgPeptidase S110647899
357GlyGluPeptidase S11958666
358ArgGlyPeptidase S115921378
359ValAspPeptidase S11958666
362LysAlaPeptidase S110970782
362LysGluPeptidase S110970782
363GlyGluPeptidase S116643212
363GlyTrpPeptidase S110094553
366AlaAspPeptidase S110094553
366AlaGlyPeptidase S115921378
369LeuPhePeptidase S115921378
369LeuValPeptidase S117014892
374ValIlePeptidase S12096489
374ValPhePeptidase S12320433
376LeuIlePeptidase S110605707
377ValPhePeptidase S110595634
379ArgGlnPeptidase S11972560
379ArgGlyPeptidase S112588353
379ArgLeuPeptidase S11897528
379ArgProPeptidase S115921378
380AlaAspPeptidase S111328285
381ThrLysPeptidase S117014892
382CysArgPeptidase S11986380
382CysTyrPeptidase S110094553
383LeuIlePeptidase S112588353
383LeuPhePeptidase S112588353
383LeuProPeptidase S18499919
384ArgAlaPeptidase S118763099, 16257919
384ArgGlnPeptidase S11972560
384ArgLeuPeptidase S120605624, 19846852
384ArgProPeptidase S18499919
387LysGluPeptidase S19600455
390IleAsnPeptidase S115921378
390IlePhePeptidase S110942410
390IleSerPeptidase S110647899
390IleThrPeptidase S110942410
392AsnAspPeptidase S111583320
394MetArgPeptidase S115921378
394MetIlePeptidase S115086324
394MetLysPeptidase S110094553
395PheIlePeptidase S18990015
395PheLeuPeptidase S112604421, 11013449
395PheValPeptidase S115842381
396CysPhePeptidase S111013449
396CysSerPeptidase S11986380
396CysTyrPeptidase S115590401, 11328285
397AlaProPeptidase S19590153
398GlyAlaPeptidase S110595634
398GlySerPeptidase S110874302
401GluLysPeptidase S117014892
404ArgThrPeptidase S110094553
405AspAsnPeptidase S110874302
406SerLeuPeptidase S17989034
407CysArgPeptidase S112588353
407CysPhePeptidase S110874302
407CysTyrPeptidase S115921378
408GlnGluPeptidase S111551226
408GlnLysPeptidase S111551226
409GlyAlaPeptidase S18076948
409GlyValPeptidase S11346975
410AspGluPeptidase S115921378
410AspGlyPeptidase S110874302
410AspHisPeptidase S11346975
410AspTyrPeptidase S111013449
410AspValPeptidase S11346975
411SerArgPeptidase S11346975
411SerGlyPeptidase S11346975
411SerIlePeptidase S11346975
412GlyAlaPeptidase S111013449
412GlyArgPeptidase S115918491
412GlyGluPeptidase S111013449
413GlyArgPeptidase S19222764
413GlyGlnPeptidase S121118338
414ProHisPeptidase S115921378
414ProThrPeptidase S112604421, 2162822
415HisArgPeptidase S115086324
419ValGluPeptidase S18199596
422ThrAsnPeptidase S111328285
424PheLeuPeptidase S115613048
424PheSerPeptidase S110874302
424PheValPeptidase S19222764
426ThrAlaPeptidase S111013449
426ThrIlePeptidase S115921378
426ThrProPeptidase S18257988
426ThrSerPeptidase S11680373
427GlyArgPeptidase S115921378
427GlyGluPeptidase S115921378
430SerThrPeptidase S110094553
431TrpArgPeptidase S110094553
431TrpCysPeptidase S17974379
431TrpGlyPeptidase S110094553
432GlySerPeptidase S111013449
432GlyValPeptidase S19600455
433GluAlaPeptidase S110094553
433GluAspPeptidase S111551226
433GluLysPeptidase S110094553
434GluLysPeptidase S116643212
435CysSerPeptidase S121118338
435CysTyrPeptidase S120829681, 20510102, 19923982, 20860169,
436AlaGluPeptidase S12270538
436AlaThrPeptidase S111013449
436AlaValPeptidase S12105717
440LysGluPeptidase S110647899
441TyrCysPeptidase S116270648
442GlyGluPeptidase S112604421
443IleThrPeptidase S11346975
443IleValPeptidase S11907972
447ValGluPeptidase S116270648
448SerTyrPeptidase S115569175
449ArgGlnPeptidase S11972560
449ArgTrpPeptidase S112604421, 9100030, 1972560
450TyrCysPeptidase S19600455
454IleAsnPeptidase S115921378

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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