Results for the protein: NP

Results for the Protein: NP_001014975

62739188

3075

CFH

NCBI

complement factor H isoform b precursor [Homo sapiens]

Known Diseases associated with this Protein:
  BASAL LAMINAR DRUSEN
  BASAL LAMINAR DRUSEN, INCLUDED
  COMPLEMENT FACTOR H DEFICIENCY
  MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO

6

2

6

2

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: CCP - smart00032 Sushi - pfam00084 CCP - cd00033	RefSeq Protein: NP_001014975 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	3e-09	389	443
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	0.00052	389	442
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	7.1e-12	389	442

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1061170	Polymorphism	p.HIS402TYR	N/A
dbSNP	rs800292	Polymorphism	p.VAL62ILE	N/A
OMIM	134370.0013	Disease	p.ARG127LEU	COMPLEMENT FACTOR H DEFICIENCY
OMIM	134370.0010	Disease	p.CYS431SER	COMPLEMENT FACTOR H DEFICIENCY
OMIM	134370.0019	Disease	p.GLN408TER	BASAL LAMINAR DRUSEN
OMIM	134370.0006	Disease	p.GLU189TER	COMPLEMENT FACTOR H DEFICIENCY
OMIM	134370.0009	Disease	p.ILE62VAL	MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO
OMIM	134370.0008	Disease	p.TYR402HIS	MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO\|\|BASAL LAMINAR DRUSEN, INCLUDED

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