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    The description :web database of mutations within complement factor h that lead to haemolytic uraemic syndrome (hus)...

    This report updates in 25-Jul-2018

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fh ahus mutation database © home information hus mpgn amd factor h factor i mcp mutations basic search adv search new mutation stats mutation maps full list c3 full list fh full list fi full list mcp snps models c3 factor h factor i mcp references links submit contact us help collaborators news !! march 2018 -- please see our new publication on the newly released database of complement gene variants : osborne et al (2018) j immunol. doi: 10.4049/jimmunol.1701695 . this 2014 version fh ahus mutation database is now obsolete and will remain live for another year for reference purposes. -- news !! february 2018 -- our publication on the newly released database of complement gene variants is currently in press at the journal of immunology. the new web-database will become accessible once this is published. -- news !! october 2017 please go to the newly released database of complement gene variants that replaces this website. the 2014 version fh ahus mutation database will remain live up to the end of march 2018 for users to refer back to, after which the database will be taken down. to reiterate, all the variants in this current database will be still available in the new database. please email us if you have any questions. news !! august 2017 this fh ahus mutation database has been updated to an entirely new database with more functionality, entitled the database of complement gene variants. this new database for 13 genes will become available in the near future, and a note will be added here to confirm its release. all of the variant data within this fh ahus mutation database has been transferred to the new database of complement gene variants. news !! february 2016 the database now includes 11 new genetic variants among 27, 1 and 2 identified respectively in the following publications: szarvas et al (2016) mol immunol. pubmed 26826462 doi: 10.1016/jmolimm.2016.01.003 sevinc et al (2015) j med case case rep. pubmed 25925370 doi: 10.1186/s13256-015-0575-y mohlin et al (2015) mol immunol. pubmed 25733390 doi:10.1016/jmolimm.2015.02.013 news !! january 2016 the genomic, nucleotide and protein reference sequences are now defined on the 'mutation maps' page. this is under 'mutations' on the left hand side menu bar. news !! august 2015 the database now includes genetic variations from rodriguez de cordoba et al (2014) semin thromb hemost. pubmed 24799305 doi: 10.1055/s-0034-1375296. the database has been moved to a new ucl server. please let us know if you encounter any issues by using the email addresses provided at the bottom of this page. news !! july 2015 the database now includes all mcp genetic variations identified in a review by liszewski et al (2015) hum genomics. pubmed 26054645 doi: 10.1186/s40246-015-0029-z. the database now holds a total of 198 genetic variations in mcp. news !! april 2015 the database now includes 47 novel cfi mutations among 71 identified in an amd study by kavanagh et al (2015) hum mol genet. pubmed 25788521 pii: ddv091 [epub]. the database now holds a total of 315 genetic variations in cfi. news !! march 2015 the database now includes 14 novel c3 mutations among 48 identified in schramm et al (2015) blood . pubmed 25608561 doi:10.1182/blood-2014-10-609073. the database now holds a total of 75 genetic variations in c3. note that we follow the hgvs guidelines for mutation numbering and nomenclature. news !! november 2014 for the xxvth complement workshop in rio, we have new totals of 324 mutations, namely 163 cfh mutations, 64 cfi mutations, 49 mcp mutations and 48 c3 mutations. this month, the database was updated to revise the c3 genetic variations identified in our publication. if you find this website useful, please reference our publication: rodriguez e, rallapalli pm, osborne aj, perkins sj (2014) new functional and structural insights from updated mutational databases for complement factor h, factor i, membrane cofactor protein and c3. bioscience reports . 34, e00146. pubmed 25188723 doi:10.1042/bsr20140117 the research is supported in part by a phd studentship grant from alexion to complement uk. news !! sep 2009 the database has now been recovered. please report any bugs that you notice. news !! may 2009 we have suffered from a complete server failure this month but these issues have been sorted out and work is being carried out to restore all the data within our fh-hus database. sorry for any inconvenience this may have caused. news !! jan 2007 mutations within complement factor b have also been associated with ahus. ( goicoechea de jorge et al., 2007 ) new !! nov 2006 fh-hus database version 2.1 the database has now been updated to include all mutations found in hus patients, including those in factor i(fi) and membrane (mcp). homology models are available for the domains of fi and mcp and all analysis previously available for factor h (fh) are now also available for fi and mcp. all snp records for fh, fi and mcp are also now included in the database on the snp pages. only those snps within coding regions will be included in the full list of mutations and within the advanced search. for more information on the different versions of the database click here . we have also redesigned the site in order to display information more clearly. please let us know what you think of the new design. quick search enter codon no : choose protein : fh fi mcp c3 advanced search have you or someone you know been diagnosed with ahus? 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: http://renux.dmed.ed.ac.uk/ http://en.wikipedia.org/ http://kidney.niddk.nih.gov http://www.webmd.com hus hus (haemolytic uraemic syndrome) is a disease associated with microangiopathic haemolytic anemia, thrombocytopenia and acute renal failure. a subgroup of the syndrome is strongly associated with abnormalities within the complement regulator factor h gene. to read information on hus click here . to read information on factor h (fh) click here . complement mutations in 2006 there were 153 factor h mutations, 42 factor i mutations, 62 mcp mutations and 49 c3 mutations linked with hus patients within this database. there were also 5 mutations within fh that are associated with mpgn patients. to see the current totals of mutations please visit the 'collaborators' or the mutation 'full list' pages from the side menu bar. following hgvs guidelines, mutations are numbered starting from the atg initiation codon and include the 18-residue signal peptide. the number of the codon with respect to the mature fh protein and consistent with the rscb pdb entry for secreted fh ( 1haq.pdb ) is shown alongside in parenthesis. type i and type ii phenotype type i indicates that the mutant protein is either absent from the plasma or present in lower amounts. this indicates the mutation has a structural effect on the mutant protein - ie reducing the stability type ii indicates that the mutant protein is present in normal amounts in plasma. this indicates that the mutation has a functional effect on the protein ie affecting substrate binding references there are four references you can use to reference this database: rodriguez et al, 2014. new functional and structural insights from updated mutational databases for complement factor h, factor i, membrane cofactor protein and c3. biosci rep. 2014 34:e00146. saunders et al, 2007. the interactive factor h-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and factor i mutations with structural models. hum mutat. 2007 28:222-234. saunders et al, 2006. an interactive web database of factor h-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. hum mutat. 2006 27:21-30. saunders & perkins, 2006. a use

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http://www.fh-hus.org/models.php?protein=mcp
http://www.fh-hus.org/models.php?protein=fh
http://www.fh-hus.org/help.php
http://www.fh-hus.org/basic.php
http://www.fh-hus.org/index.php
http://www.fh-hus.org/links.php
http://www.fh-hus.org/fulllist.php?protein=fh
http://www.fh-hus.org/models.php?protein=fi
http://www.fh-hus.org/models.php?protein=c3
http://www.fh-hus.org/contact.php
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http://www.fh-hus.org/hus.php
http://www.fh-hus.org/snps.php
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http://www.fh-hus.org/fulllist.php?protein=c3
renux.dmed.ed.ac.uk

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