Results for the protein: P50454

Results for the Protein: P50454

20141241

871

SERPINH1

NCBI, UniProt

SERPH_HUMAN RecName: Full=Serpin H1; AltName: Full=47 kDa heat shock protein; AltName: Full=Arsenic-transactivated protein 3; Short=AsTP3; AltName: Full=Cell proliferation-inducing gene 14 protein; AltName: Full=Collagen-binding protein; Short=Colligin; AltName: Full=Rheumatoid arthritis-related antigen RA-A47; Flags: Precursor

Known Diseases associated with this Protein:
OSTEOGENESIS IMPERFECTA 10 (OI10)
OSTEOGENESIS IMPERFECTA, TYPE X

2

2

1

1

2

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.

Swiss-Prot Protein: P50454

Identical to: NP_001193943, NP_001226

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PEDF	cd02052	1.1e-11	33	409
PAI-1_nexin-1	cd02051	3.2e-17	37	409
antithrombin-III_lik	cd02045	8.5e-31	39	406
hsp47	cd02046	2.4e-287	41	406
angiotensinogen	cd02054	5.7e-13	42	409
PZI	cd02055	3e-11	42	406
ov-serpin	cd02044	2.4e-42	43	409
alpha2AP	cd02053	1.5e-10	43	406
maspin_like	cd02057	1.1e-26	43	409
ovalbumin_like	cd02059	7.9e-22	43	409
PAI-2	cd02058	2.7e-27	43	409
bacterial_SERPIN	cd02049	1.5e-26	43	406
neuroserpin	cd02048	1.2e-25	44	418
plant_SERPIN	cd02043	6.4e-12	45	409
SERPIN	cd00172	4.8e-89	46	406
C1_inh	cd02050	1.6e-08	48	406
alpha-1-antitrypsin_	cd02056	1.4e-18	51	406
COG4826	COG4826	1e-20	1	413
Serpin	pfam00079	2.5e-105	45	409
SERPIN	smart00093	2.6e-133	52	409

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_028445	Polymorphism	p.ALA41PRO	N/A
dbSNP	rs61736330	Polymorphism	p.ARG148SER	N/A
Swiss-Prot	VAR_063602	Disease	p.LEU78PRO	Osteogenesis imperfecta 10 (OI10)
OMIM	600943.0002	Disease	p.LEU78PRO	OSTEOGENESIS IMPERFECTA, TYPE X

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