Results for the protein: NP

Results for the Protein: NP_001153582

231571329

4846

NOS3

NCBI

nitric oxide synthase, endothelial isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED;;
  CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO
  HYPERTENSION,

1

2

1

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: NOS_oxygenase_euk - cd00795 NO_synthase - pfam02898 COG4362 - COG4362 NOS_oxygenase_prok - cd00794 NOS_oxygenase - cd00575 Flavodoxin_1 - pfam00258	RefSeq Protein: NP_001153582 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NOS_oxygenase	cd00575	2.1e-291	122	477
NOS_oxygenase_prok	cd00794	6.7e-165	122	477
NO_synthase	pfam02898	2.2e-294	115	481
COG4362	COG4362	8.4e-147	117	485
Flavodoxin_1	pfam00258	5.4e-06	522	614

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3918166	Polymorphism	p.ARG112GLN	N/A
dbSNP	rs1799983	Polymorphism	p.ASP298GLU	N/A
OMIM	163729.0001	Disease	p.GLU298ASP	CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO\|\|ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED;;\|\|HYPERTENSION,

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.

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