HGVS numbering
▼
Codons and amino-acids are numbered on this site in two ways. In HGVS numbering, codons are numbered with codon +1 coding for the first residue (Met) of the signal peptide/propeptide. In Legacy numbering, codon +1 refers to coding for the first amino-acid of the mature protein. HGVS numbering is recommended, however Legacy numbering is used in publications, particularly before the year 2000.
Transcript and protein IDs
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This table lists the Ensembl and RefSeq transcript and protein IDs used in this database.
Have you or someone you know been diagnosed with aHUS, C3G or AMD?
▼
The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals.
Here are several links for patient information on aHUS, C3G and AMD:
Acknowledgements
▼
We have been able to work on this project supported by grants from the following:
The following people have worked on this project:
Miss Amy J. Osborne |
Dept of Structural and Molecular Biology, UCL, UK |
Version 3 concept, design and implementation and update; CURRENT |
Dr Pavithra M. Rallapalli |
Dept of Structural and Molecular Biology, UCL, UK |
Web-database update; from 2012 to 2014 |
Dr Elizabeth Rodriguez |
Dept of Structural and Molecular Biology, UCL, UK |
Web-database update; from 2012 to 2014 |
Dr Rebecca E. Saunders |
Dept of Structural and Molecular Biology, UCL, UK |
Web-database concept, design and implementation; up to 2006 |
Prof Stephen J. Perkins |
Dept of Structural and Molecular Biology, UCL, UK |
Project Supervisor |
The following people have contributed to the database and are part of The European Working Party on the Genetics of HUS:
Prof Timothy H.J. Goodship |
Department of Nephrology, University of Newcastle upon Tyne, UK |
Dr Veronique Fremeaux-Bacchi |
Service d'Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris |
Dr Elena Goicoechea de Jorge |
Departamento de Inmunologia, Centro de Investigaciones Biologicas (CSIC), Madrid |
Dr Margarita López Trascasa |
Inmunología. Hospital Universitario "La Paz", Hospital Infantil. Planta Sótano, Paseo de la Castellan, Madrid |
Dr Marina Noris |
Laboratory of Immunology and Genetics of Rare Diseases and Transplantation, Mario Negri Institute for Pharmacological Research Villa Camozzi,Italy |
Dr Isabel Maria Ponce Castro |
Inmunología. Hospital Universitario "La Paz", Hospital Infantil. Planta Sótano, Paseo de la Castellan, Madrid |
Prof Giuseppe Remuzzi |
Laboratory of Immunology and Genetics of Rare Diseases and Transplantation, Mario Negri Institute for Pharmacological Research Villa Camozzi,Italy |
Prof Santiago Rodriguez de Cordoba |
Departamento de Inmunologia, Centro de Investigaciones Biologicas (CSIC), Madrid |
Dr Pilar Sanchez-Corral |
Research Unit, Hospital Universitario La Paz, Madrid, Spain |
Prof Peter F. Zipfel |
Department of Infection Biology, Hans Knoll Institute for Natural Products Research, Germany |
The following people have contributed to the database (and not part of The European Working Party on the Genetics of HUS):
Prof Richard J.Smith |
Iowa Institute of Human Genetics, The University of Iowa, Iowa City, US |
Prof Bert van den Heuvel |
Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen |
More information on the contributors to the database can be found on the Collaborators webpage.
News and updates; latest release: Version 3.0
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Version |
Date |
Total data |
Updates |
Reference |
3.00 |
April 2018 |
844 (disease) and 8145 (ExAC)
|
In version 3.00, for aHUS and C3G, 371 and 81 new rare variants were added, respectively, which now includes 13 genes (listed above). In addition, variants from the ExAC, the EVS and The 1000 Genomes Project were included in order to provide the user with variant allele frequency data. For the aHUS and C3G rare variants, the disease dataset allele frequency is also shown, where available. The previous FH-HUS database (version 2.26) sourced from publications on aHUS, C3G and AMD patients and dbSNP has been retained. The following new features have been added:
- Variant map
- World map
- Structural models for FB, THBD and FP
- Multiple sequence alignment of up to ten species, for each gene
- ExAC allele frequency filter
|
Osborne et al., 2018
|
2.26 |
February 2016 |
1146 genetic alterations (inc. no. of SNPs): 543 CFH (344) 325 CFI (185) 201 MCP (112) 77 C3 (13) |
This data is from the old version of the database which can be accessed at: www.fh-hus.org
- Added 6 FH mutations
- Added 2 CFI mutations
- Added 1 MCP mutations
- Added 2 C3 mutations
|
Szarvas et al., 2016
Sevinc et al., 2015
Mohlin et al., 2015
|
2.25 |
August 2015 |
1135 genetic alterations: 537 CFH 323 CFI 200 MCP 75 C3 |
- Added 23 CFH mutations
- Added 8 CFI mutations
- Added 2 MCP mutations
|
Rodriguez de Cordoba et al., 2014
|
2.24 |
July 2015 |
1102 genetic alterations: 514 CFH 315 CFI 198 MCP 75 C3 |
|
Liszewski et al., 2015
|
2.23 |
April 2015 |
1084 genetic alterations: 514 CFH 315 CFI 180 MCP 75 C3 |
- Added 47 CFI mutations
- Added correct structural models for CFH
|
Kavanagh et al., 2015
|
2.22 |
March 2015 |
1037 genetic alterations: 514 CFH 268 CFI 180 MCP 75 C3 |
- Added correct structural models for C3
- Added correct structural models for CFI
- Added correct structural models for MCP
|
None |
2.21 |
March 2015 |
1037 genetic alterations: 514 CFH 268 CFI 180 MCP 75 C3 |
|
Schramm et al., 2015
|
2.2 |
June 2014 |
1023 genetic alterations: 514 CFH 268 CFI 180 MCP 61 C3 |
- Added C3 mutations
- Added C3 structural model and analysis
- Added dbSNP data for C3 locus
|
Rodriguez et al., 2014
|
2.1 |
Oct 2006 |
791 genetic alterations: 438 CFH 138 MCP 215 CFI |
- Added dbSNP data for CFH, MCP and CFI loci
|
None |
2 |
June 2006 |
167 genetic alterations: 100 CFH 43 MCP 24 CFI |
- Updated structural analysis for SCR19 and SCR-20 X-ray structures
- Added MCP and CFI mutations
- Added MCP and CFI structural models and analysis
- Added disease-associated polymorphisms
|
Saunders et al., 2007
|
1 |
Nov 2004 |
54 CFH genetic alterations |
|
Saunders et al., 2006
|
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