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: 2 unique variants retrieved

  1. «
  2. 1
  3. »
  c.1120G>A
p.(Val374Ile) Legacy AA 328
Variant Type:
Polymorphism
Domain:
Serine Protease
cDNA number:
1120
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
2229
1
<1
Moderate
I
Netherlands
Also has c.252+3_252+6delGAGT causative mutation
Poort et al (1990)
  c.1120G>T
p.(Val374Phe) Legacy AA 328
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1120
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
9
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
2230
4
4
Moderate
II
United Kingdom
-
Winship (1990)
2231
-
-
-
Germany
-
Knobloch et al (1993)
2232
<1
4
Severe
II
United Kingdom
-
Saad et al (1994)
2233
<1
<1
Severe
-
-
Centre B15 (unpublished)
2234
<1
4
Severe
II
France
-
Costa et al (2000)
2236
-
-
-
-
Centre B17 (unpublished)
2237
<1
3
Severe
II
-
Centre B39 (unpublished)
2238
<1
3
Severe
II
-
Centre B39 (unpublished)
3453
0.4
0.8
Severe
-
NO
Italy
-
Belvini et al (2005)
  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.