Results for the protein: P08603

Results for the Protein: P08603

158517847

3075

CFH

NCBI, UniProt

CFAH_HUMAN RecName: Full=Complement factor H; AltName: Full=H factor 1; Flags: Precursor

Known Diseases associated with this Protein:
  COMPLEMENT FACTOR H DEFICIENCY (CFHD)
  HEMOLYTIC UREMIC SYNDROME ATYPICAL 1 (AHUS1)
  MACULAR DEGENERATION, AGE-RELATED, 4 (ARMD4)

41

16

0

0

57

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Default View: Sushi - pfam00084 CCP - smart00032 CCP - cd00033	Swiss-Prot Protein: P08603 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CCP	cd00033	2e-14	85	142
CCP	cd00033	9.1e-17	146	206
CCP	cd00033	2.4e-08	210	263
CCP	cd00033	4e-10	267	321
CCP	cd00033	3.9e-09	389	443
CCP	cd00033	4.6e-09	448	506
CCP	cd00033	4.7e-08	509	565
CCP	cd00033	7.4e-12	569	624
CCP	cd00033	2.6e-16	630	685
CCP	cd00033	5.8e-16	691	745
CCP	cd00033	9.4e-11	811	865
CCP	cd00033	3.8e-17	870	927
CCP	cd00033	1.1e-15	931	985
CCP	cd00033	5.7e-15	989	1044
CCP	cd00033	6.1e-17	1048	1103
CCP	cd00033	4.2e-18	1109	1164
Sushi	pfam00084	9.4e-07	21	80
Sushi	pfam00084	9.3e-13	85	141
Sushi	pfam00084	9.9e-10	146	205
Sushi	pfam00084	0.00046	210	262
Sushi	pfam00084	0.0002	267	320
Sushi	pfam00084	6.7e-08	325	385
Sushi	pfam00084	6e-05	389	442
Sushi	pfam00084	2.6e-06	448	505
Sushi	pfam00084	5.5e-06	509	564
Sushi	pfam00084	1.2e-07	569	623
Sushi	pfam00084	5.7e-11	630	684
Sushi	pfam00084	8.1e-10	691	744
Sushi	pfam00084	7.3e-11	811	864
Sushi	pfam00084	3e-11	870	926
Sushi	pfam00084	2.1e-09	931	984
Sushi	pfam00084	5.9e-09	989	1043
Sushi	pfam00084	4.5e-11	1048	1102
Sushi	pfam00084	2.2e-11	1109	1163
Sushi	pfam00084	1.9e-06	1167	1228
CCP	smart00032	1.1e-06	21	80
CCP	smart00032	2.1e-15	85	141
CCP	smart00032	5.7e-19	146	205
CCP	smart00032	6.7e-08	210	262
CCP	smart00032	4.7e-11	267	320
CCP	smart00032	0.00043	325	385
CCP	smart00032	1.3e-11	389	442
CCP	smart00032	8.5e-12	448	505
CCP	smart00032	9.8e-09	509	564
CCP	smart00032	2.1e-11	569	623
CCP	smart00032	4.3e-14	630	684
CCP	smart00032	9.4e-14	691	744
CCP	smart00032	1.2e-10	811	864
CCP	smart00032	5.2e-16	870	926
CCP	smart00032	8.4e-15	931	984
CCP	smart00032	8.9e-14	989	1043
CCP	smart00032	7.6e-16	1048	1102
CCP	smart00032	4.5e-16	1109	1163

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055684	Polymorphism	p.ALA1010THR	N/A
Swiss-Prot	VAR_025885	Disease	p.ARG1210CYS	Macular degeneration, age-related, 4 (ARMD4)
Swiss-Prot	VAR_025887	Disease	p.ARG1215GLN	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_025886	Disease	p.ARG1215GLY	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_043893	Polymorphism	p.ARG567GLY	N/A
Swiss-Prot	VAR_025864	Disease	p.ARG78GLY	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_031978	Disease	p.ARG127LEU	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_043895	Polymorphism	p.ARG1078SER	N/A
Swiss-Prot	VAR_055683	Polymorphism	p.ASN997THR	N/A
Swiss-Prot	VAR_025096	Polymorphism	p.ASN1050TYR	N/A
Swiss-Prot	VAR_025874	Disease	p.ASP1119GLY	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_025872	Disease	p.CYS1043ARG	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_019405	Disease	p.CYS536ARG	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_031981	Disease	p.CYS431SER	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_031982	Disease	p.CYS673SER	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_031985	Disease	p.CYS915SER	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025878	Disease	p.CYS1163TRP	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025865	Disease	p.CYS630TRP	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_063648	Disease	p.CYS325TYR	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_031983	Disease	p.CYS673TYR	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_019406	Disease	p.CYS959TYR	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_025873	Disease	p.GLN1076GLU	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_043896	Polymorphism	p.GLN1143GLU	N/A
Swiss-Prot	VAR_025867	Disease	p.GLN950HIS	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_031980	Disease	p.GLN400LYS	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025884	Disease	p.GLU1198ALA	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_020261	Polymorphism	p.GLU936ASP	N/A
Swiss-Prot	VAR_025866	Disease	p.GLU850LYS	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025882	Disease	p.GLY1194ASP	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_031984	Disease	p.HIS893ARG	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_063650	Disease	p.ILE1169LEU	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025097	Polymorphism	p.ILE1059THR	N/A
Swiss-Prot	VAR_025092	Polymorphism	p.ILE551THR	N/A
Swiss-Prot	VAR_019407	Disease	p.LEU1189ARG	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_031986	Disease	p.PHE1199SER	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025888	Disease	p.PRO1226SER	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025093	Polymorphism	p.SER890ILE	N/A
Swiss-Prot	VAR_019408	Disease	p.SER1191LEU	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025881	Disease	p.THR1184ARG	Complement factor H deficiency (CFHD)
Swiss-Prot	VAR_043892	Polymorphism	p.THR493ARG	N/A
Swiss-Prot	VAR_025095	Polymorphism	p.THR1017ILE	N/A
Swiss-Prot	VAR_025869	Disease	p.THR956MET	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025877	Disease	p.TRP1157ARG	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025880	Disease	p.TRP1183ARG	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_063651	Disease	p.TRP1183CYS	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025870	Disease	p.TRP978CYS	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025879	Disease	p.TRP1183LEU	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025876	Disease	p.TYR1142ASP	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_001979	Polymorphism	p.TYR402HIS	N/A
Swiss-Prot	VAR_025868	Disease	p.TYR951HIS	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025871	Disease	p.TYR1021PHE	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025883	Disease	p.VAL1197ALA	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025875	Disease	p.VAL1134GLY	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_025094	Polymorphism	p.VAL1007ILE	N/A
Swiss-Prot	VAR_063649	Disease	p.VAL609ILE	Hemolytic uremic syndrome atypical 1 (AHUS1)
Swiss-Prot	VAR_023836	Polymorphism	p.VAL62ILE	N/A
Swiss-Prot	VAR_043894	Polymorphism	p.VAL1007LEU	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258