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Data Display Options:
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.1150C>T
p.(Arg384*) Legacy AA 338
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1150
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
41
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
683
0.9
-
Severe
-
Italy
-
Belvini et al (2005)
2407
<1
<1
Severe
-
United States
-
Driscoll et al (1989)
2408
2
<1
Moderate
I
United Kingdom
-
Green et al (1990)
2409
<1
-
Severe
-
United Kingdom
-
Green et al (1990)
2410
<1
<1
Severe
-
United States
-
Freedenberg et al (1989)
2411
<1
<1
Severe
-
Canada
-
Tam et al (1991)
2412
<1
<1
Severe
-
Canada
also Fraser et al (1992)
Poon et al (1987)
2413
<1
<1
Severe
-
Canada
-
Poon et al (1993)
2414
<1
<1
Severe
-
-
Centre B22 (unpublished)
2415
<1
<1
Severe
-
-
Centre B22 (unpublished)
2416
<1
<1
Severe
-
-
Aguilar-Martinez et al (1994B)
2417
<1
<1
Severe
-
France
-
Tartary et al (1993)
2418
<1
-
Severe
-
United States
-
Gostout et al (1993)
2419
1
-
Moderate
-
United States
-
Thorland et al (1995)
2420
1
-
Moderate
-
United States
-
Thorland et al (1995)
2421
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
2422
<1
-
Severe
-
United States
-
Driscoll et al (1996)
2423
-
-
-
Turkey
-
Onay et al (2003)
2425
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2426
<1
-
Severe
-
-
Centre B13 (unpublished)
2427
<3
-
-
-
Centre B39 (unpublished)
2428
<1
-
Severe
-
-
Centre B20 (unpublished)
2429
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
2430
<1
-
Severe
-
United States
-
Li et al (2000)
2431
-
-
Severe
-
China
-
Liu et al (2000)
2432
<1
-
Severe
-
-
Centre B9 (unpublished)
2434
0.5
-
Severe
-
-
Centre B36 (unpublished)
2435
0
-
Severe
-
-
Centre B36 (unpublished)
2437
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2438
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2439
<1
<1
Severe
-
Germany
-
Ludwig et al (1989)
2440
<1
-
Severe
I
India
-
Ghosh et al (2009)
3818
Germany
Wulff et al (2001)
3427
<1
<1
Severe
-
Canada
also has p.Ile7Phe polymorphism
Poon et al (1993)
3619
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3620
-
-
Sporadic
Moderate
-
NO
China
-
Yu et al (2012)
3697
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4635
<1
Severe
NO
United States
Johnsen et al (2017)
4636
<1
Severe
United States
Johnsen et al (2017)
4637
<1
Severe
NO
United States
Johnsen et al (2017)
4638
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1150_1151delinsGC
p.(Arg384Ala) Legacy AA 338
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1150
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
No. of cases reported:
1
No. of bases:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Inframe) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2443
-
-
-
China
-
Yan et al, 2005
  c.1151G>T
p.(Arg384Leu) Legacy AA 338
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1151
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3711
776
92
Sporadic
I
NO
Italy
Hyperactive Variant; Padua variant;
Simioni et al (2009)
3712
551
64
Sporadic
I
NO
Italy
Hyperactive Variant; Padua variant;
Simioni et al (2009)
  c.1151_1154del
p.(Arg384Leufs*41) Legacy AA 338
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1151
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3139
<1
-
Familial
Severe
-
India
-
Jayandharan et al (2005)
  c.1151G>C
p.(Arg384Pro) Legacy AA 338
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1151
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2441
16
27
Mild
II
United States
-
Gostout et al (1993)
2442
10
-
Mild
-
-
Centre B18 (unpublished)
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