aHUS, C3G and AMD associated genetic variants

Since the first reports in 1998 by Warwicker et al, genetic variants in the genes encoding complement alternative pathway (AP) proteins predispose to aHUS and C3G. Within this database there are 844 published genetic variants identified in aHUS, C3G, AMD and other related diseases of complement.

What can you do in this database?

Search for genetic variants reported in the C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, CFP, DGKE, PLG and THBD genes which may have an association with aHUS, AMD, C3G and TMA by using the 'Simple Search' tools to the right or by clicking 'Advanced Search' on the menu bar. The search result will display variant sequence, phenotype, structural, functional and allele frequency data.

Citing us

1. Osborne AJ et al (2018) Statistical validation of rare complement variants provides insights into the molecular
   basis of atypical hemolytic uremic syndrome and C3 glomerulopathy. J Immunol. 200:2464-2478
2. Rodriguez E 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. 34:635-649
3. Saunders RE 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. 28:222-34
4. Saunders RE 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. 27:21-30