Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001139320
224994191

prominin-1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  CONE-ROD DYSTROPHY 12, INCLUDED
  MACULAR DYSTROPHY, RETINAL, 2, INCLUDED;;
  RETINITIS PIGMENTOSA 41
  STARGARDT DISEASE 4
2
0
2
0
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:

Prominin - pfam05478




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM604365.0003 Diseasep.ARG364CYSSTARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2, INCLUDED;;||CONE-ROD DYSTROPHY 12, INCLUDED
OMIM604365.0002 Diseasep.GLN567TERRETINITIS PIGMENTOSA 41



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