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Factor IX Variant Database

Haemophilia B is caused by Variants (mutations) in the F9. Gene which codes for coagulation factor IX. There are currently 1095. Unique variants in the F9. Gene compiled within this database corresponding to 3713. If you find this website useful, please reference our publication:. What can you do in this database? You can search for all the mutations reported in the F9. Simple Amino Acid Search. Exon and Intron based search. Codon/Amino-acid numbering: HGVS and Legacy. We are grateful for Dr Peter Green'...

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Stephen Perkins

Department of S●●●●●●●●●●●●●●●lecular Biology

Lo●●on , London, WC1E 6BT

GB

44.2●●●●7048
s.●●●●●●●@ucl.ac.uk

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Stephen Perkins

Department of S●●●●●●●●●●●●●●●lecular Biology

Lo●●on , London, WC1E 6BT

GB

44.2●●●●7048
s.●●●●●●●@ucl.ac.uk

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Factor IX Variant Database | factorix.org Reviews
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Haemophilia B is caused by Variants (mutations) in the F9. Gene which codes for coagulation factor IX. There are currently 1095. Unique variants in the F9. Gene compiled within this database corresponding to 3713. If you find this website useful, please reference our publication:. What can you do in this database? You can search for all the mutations reported in the F9. Simple Amino Acid Search. Exon and Intron based search. Codon/Amino-acid numbering: HGVS and Legacy. We are grateful for Dr Peter Green'...
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2 variants
3 variant map
4 statistics
5 new variant
6 world map
7 structures
8 aa alignments
9 resources
10 coagbase data
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Factor IX Variant Database | factorix.org Reviews

https://factorix.org

Haemophilia B is caused by Variants (mutations) in the F9. Gene which codes for coagulation factor IX. There are currently 1095. Unique variants in the F9. Gene compiled within this database corresponding to 3713. If you find this website useful, please reference our publication:. What can you do in this database? You can search for all the mutations reported in the F9. Simple Amino Acid Search. Exon and Intron based search. Codon/Amino-acid numbering: HGVS and Legacy. We are grateful for Dr Peter Green'...

INTERNAL PAGES

factorix.org factorix.org
1

Factor IX Variant Database

http://www.factorix.org/structure.html.php

Homology Model of Human FIXa. All structural analysis of the mutations presented within this database uses the homology model of FIXa ( FIXa HUMAN.pdb. That was generated by us from the experimental structures available for the 4 domains individually. The PDB codes of the experimental structures for these 4 human domains are: Gla domain ( PDB code: 1CFI. The EGF1 domain ( PDB code: 1EDM. And the EGF2-SP domain pair ( PDB code: 3KCG. The model was built using MODELLER 9.10. And Discovery Studio 2.5. Facto...

2

Factor IX Variant Database

http://www.factorix.org/sequence.html.php

Clicking and Dragging the mouse over the sequences will take you across the sequence limits. All numbering is for human FIX and is HGVS. Multiple Sequence Alignment of putative FIX protein sequence from selected species. Multiple Sequence Alignment of Human Vitamin K dependent coagulation factors serine protease domains. Gower Street, London WC1E 6BT.

3

Factor IX Variant Database

http://www.factorix.org/statistics.html.php

There are currently 1095 unique variants in FIX within this database corresponding to 3713 individual cases. Phenotype data coverage in individual variant records. Data for Disease Severity. All data fields complete. Unique Variants with specific mutation type. Unique exonic variants within each protein domain. Type I and Type II variants. Records by reported disease severity. Country of the reporting laboratory or centre. Gower Street, London WC1E 6BT.

4

Factor IX Variant Database

http://www.factorix.org/support_help.html.php

You can carry out a variety of different searches varying from simply returning the variants within a simple FIX domain to complex queries that retrieve variants of a certain phenotype, amino acid type and from specific authors over a range of domains in the Haemophilia B variant database. The nucleotide description for each variant includes the nucleotide number, where, following HGVS guidelines c. represents cDNA. Each patient record has a reference field quoting the reference that originally discussed...

5

Factor IX Variant Database

http://www.factorix.org/world_map.html.php

World map showing the frequency of published Haemophilia A reports. In this map you can see the frequency of the number of patients reported from different parts of the world. Note that the data is based on the cases reported in this database alone. Click on the image below to see published reports from a particular country. Gower Street, London WC1E 6BT.

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eahad-db.org eahad-db.org

EAHAD VARIANT DATABASES

http://www.eahad-db.org/citations.html.php

If you find our databases useful, please reference our publications:. Factor IX Mutation Database:. Rallapalli, pm, Kemball-Cook, G., Tuddenham, E.G., Gomez, K., and Perkins, S.J. 2013. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of haemophilia B. 11(7):1329-1340 available from: PM:23617593. VWF Online Database (VWFdb). 37(5):470-479 available from: PM:22102189. 2010 , EAHAD.

cambridge-coagulation.co.uk cambridge-coagulation.co.uk

Molecular Databases | Cambridge Coagulation

http://www.cambridge-coagulation.co.uk/mol-haemo-online

Addenbrooke's Haemostasis Unit. Molecular Haemostasis online databases:. Von Willebrand’s Disease (. ISTH-SSC VWF Online Database (VWFdb). Gene Imperial College London. ISTH – Coagulation sequence and structure database. Proudly powered by WordPress.

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Factor IX Variant Database

Haemophilia B is caused by Variants (mutations) in the F9. Gene which codes for coagulation factor IX. There are currently 1095. Unique variants in the F9. Gene compiled within this database corresponding to 3713. If you find this website useful, please reference our publication:. What can you do in this database? You can search for all the mutations reported in the F9. Simple Amino Acid Search. Exon and Intron based search. Codon/Amino-acid numbering: HGVS and Legacy. We are grateful for Dr Peter Green'...

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