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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
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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.1087G>C
p.(Gly363Arg) Legacy AA 317
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1087
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
2191
<1
-
Severe
-
-
Centre B23 (unpublished)
2195
-
-
-
Pakistan
-
Nawaz et al (2008)
  c.1087G>A
p.(Gly363Arg) Legacy AA 317
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1087
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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
3605
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
  c.1087G>T
p.(Gly363Trp) Legacy AA 317
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1087
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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
2192
<1
-
Severe
-
Spain
-
Montejo et al (1999)
  c.1088_1096delGGAGATCAinsA
p.(Gly363Aspfs*8) Legacy AA 317
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1088
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
8
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 | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2197
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.1088G>A
p.(Gly363Glu) Legacy AA 317
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1088
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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
2193
-
-
-
United Kingdom
-
Saad et al (1994)
2194
-
-
-
-
Centre B39 (unpublished)
3606
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3721
<1
100
Severe
NO
Italy
Bicocchi et al (2006)
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