Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_068815
20149572

optineurin [Homo sapiens]

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 12
  GLAUCOMA 1, OPEN ANGLE, E
  GLAUCOMA 1, OPEN ANGLE, E, INCLUDED
  GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
5
3
5
3
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:

NEMO - pfam11577


RefSeq Protein: NP_068815
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NEMOpfam115771.1e-3437104

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs75654767 Polymorphismp.ARG545GLNN/A
dbSNPrs523747 Polymorphismp.LYS322GLNN/A
dbSNPrs11258194 Polymorphismp.MET98LYSN/A
OMIM602432.0003 Diseasep.ARG545GLNGLAUCOMA 1, OPEN ANGLE, E
OMIM602432.0006 Diseasep.GLN398TERAMYOTROPHIC LATERAL SCLEROSIS 12
OMIM602432.0007 Diseasep.GLU478GLYAMYOTROPHIC LATERAL SCLEROSIS 12
OMIM602432.0001 Diseasep.GLU50LYSGLAUCOMA 1, OPEN ANGLE, E
OMIM602432.0004 Diseasep.MET98LYSGLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO||GLAUCOMA 1, OPEN ANGLE, E, INCLUDED



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258