There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with HUS patients within this database.
There are also 5 mutations within FH that are associated with MPGN patients.

• Records for mutations within FH, FI or MCP can be retrieved using any combination of the following search criteria
• If nothing is entered for domain and codon the search will return mutations over the entire range of the entire protein
• You can search by nucleotide number where numbering is according to HGVS guidelines and nucleotide 1 refers the A of the ATG initiation codon.
• If you do not find a mutation that is in a publication, it may not be numbered according to HGVS guidelines. You can search for the original published nomenclature.
• For faster searches do not include JMol display output.



Protein:	Factor H Factor I MCP Any echo <<
Codon:	(from)		(to)
SCR:	(from)		(to)
Domain:
Initial Residue:	Ala Arg Asn Asp Cys Gln Glu Gly His Ile Leu Lys Met Phe Pro Ser Stop Thr Trp Tyr Val	Mutant Residue:	Ala Arg Asn Asp Cys Gln Glu Gly His Ile Leu Lys Met Phe Pro Ser Stop Thr Trp Tyr Val
Reference:	. Abrera-Abeleda et al, 2006 Abrera-Abeleda et al, 2006 Ault et al, 1997 Baracho et al, 2003 Caprioli 20 03 Caprioli 2001 Caprioli 2003 Caprioli et al, 2006 Castelletti et al, 2006 Abstract Chronic microangiopathic haemolysis Dragon-Durey 2004 Edwards et al 2005 Esparza-Gordillo et al, 2005 Filler et al, 2004 Fremeaux-Bacchi et al, 2006 Fremeaux-Bacchi et al, 2004 Fremeaux-Bacchi et al, 2006 Fremeuax-Bacchi et al, 2004 Geelen et al., 2007 Goicoechea de Jorge et al, 2005 Abs Goodship 2004 Guigonis et al, 2005 Hageman et al, 2005 Hageman et al, 2005 Haines et al 2005 Heinen et al 2006 Abstract Heinen et al, 2006 Kavanagh et al, 2005. Klien et al 2005 Licht et al, 2006 Liszewski et al., 1991 Manuelian 2003 Meyer et al 1995 Morley et al, 1998 Neumann 2003 Nilsson et al., 2007 Nilsson et al., 2007 Noris et al 2005 Noris et al, 2003 Perez-Caballero 2001 Richards 2001 Richards et al, 2003 Rodriguez de Cordoba 2005 SNP #rs17006843 SNP# rs12126088 Saland et al, 2006 Sanchez-Corral 2002 Sanchez-Corral et al 2000 Servais et al., 2007 Vaziri-Sani et al, 2006 Vyse et al, 1996 Warwicker 1998 Ying et al 1999 aHus delveloped at 8 months of age. {Kavanagh et al, 2005{.
Nucleotide:		Original Nomenclature:
Condition:	AMDFI DeficiencyGlomerulonephritisHUSHUS, AMDMPGNNone
Phenotype: Any Type I Type II Unknown Genotype: Any Het Hom CH HUS Inheritance: Any Familial Sporadic Reference Type: Full Citation Abstract Only No Reference Mutation Type: Missense Nonsense Insertion Deletion Splice Site Polymorphisms
			Include JMOL Display