EAHAD Logo

Factor IX Gene (F9) Variant Database  

F9
  • Home
  • Advanced Search
  • Variants
    • Variant Map
    • F9 cDNA-Protein Translation
    • New Variant?
    • Variant Statistics
    • World Map
  • AA Alignments
    • FIX Ten Species
    • IX-VII-X-PC-CHY
  • Resources
    • Published References
    • Coagbase Data
    • Uniprot FA9
  • Structures
  • Support
    • Submit Variants
    • Organisations
    • EAHAD DB
    • Contact Us
    • Help
Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

  1. «
  2. 1
  3. »
  c.1057G>C
p.(Val353Leu) Legacy AA 307
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1057
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
2119
-
-
-
-
Centre B13 (unpublished)
  c.1057_1058delGT
p.(Val353Lysfs*20) Legacy AA 307
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1057
Variant Effect:
Frameshift
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 (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
4830
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1058T>C
p.(Val353Ala) Legacy AA 307
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1058
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
7
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
2120
15
40
Mild
II
United States
-
Chen et al (1991a)
2121
14
50
Mild
II
United States
-
Thompson et al (1992A)
2122
10
62
Mild
II
United States
-
Weinmann et al (1998)
2123
12
35
Mild
II
-
Centre B38 (unpublished)
2124
-
-
Mild
-
-
Centre B38 (unpublished)
2125
14
-
Mild
-
-
Centre B38 (unpublished)
2126
18
46
Mild
II
United States
-
Bottema et al (1989A)
  c.1058T>A
p.(Val353Glu) Legacy AA 307
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1058
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
2128
<1
<1
Severe
-
India
-
Quadros et al, (2009)
  c.1058T>G
p.(Val353Gly) Legacy AA 307
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1058
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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
2127
3
4
Moderate
I
United Kingdom
-
Green et al (1991)
3468
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
3469
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
  1. «
  2. 1
  3. »
© Copyright 2010-2022, EAHAD. No part of this site may be copied or used in any way without permission. Hosted at MDSAS.